Hexa gene full name. Beta-hexosaminidase is composed of two subunits .

Hexa gene full name. Beta-hexosaminidase A is located in lysosomes, which are structures in cells that break down toxic substances and act as recycling centers. Beta-hexosaminidase subunit beta is an enzyme that in humans is encoded by the HEXB gene. 1, with a leading prefix 'GTR' followed by 8 digits, a period, then 1 or more digits representing the version. Oct 29, 2010 · As its name implies, the HEXA gene is essential to the production of the Hex-A enzyme, which is further comprised of alpha and beta subunits. Dec 20, 2023 · Hexa gene is a revolutionary technology that allows for the creation of complex biological circuits using a simplified six-letter genetic code. 2. Inside lysosomes, beta-hexosaminidase A dismantles a fatty substance called GM2 ganglioside. 2. (1pt) (B) Would you expect either of the following to have a similar effect on protein A rare autosomal recessive lysosomal disease characterized by accumulation of GM2 gangliosides in the nervous system due to hexosaminidase A deficiency as a consequence of biallelic pathogenic variants in the HEXA gene. The HEXA gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, A. Below, a more detailed description is shown per column. Another fairly common mutation is a splice junction mutation found at intron twelve (Navon, 1989). Second-tier test for confirming a biochemical diagnosis of Tay-Sachs disease (TSD) Carrier testing of individuals with a family history of TSD but an affected individual is not available for testing or disease-causing mutations have not been identified Testing individuals with enzyme activity consistent with carrier status but negative molecular testing by a panel of common mutations HEXA gene: The most common mutation of the HEXA gene resulting in Tay-Sachs disease is a four base pair insertion found in exon eleven (OMIM,2001). Specifically, the protein produced from the HEXA gene forms the alpha subunit of this enzyme. In this therapy a modified virus (AAVrh8) is used to deliver working copies of the HEXA and HEXB genes into nerve cells. [5][6][7] Hexosaminidase B is the beta subunit of the lysosomal enzyme beta-hexosaminidase that, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Tay-Sachs Disease, HEXA Gene, Full Gene Analysis, Varies Special Instructions Molecular Genetics: Biochemical Disorders Patient Information Informed Consent for Genetic Testing Tay-Sachs and Related Disorders Diagnostic Testing Algorithm Yes Reporting Name HEXA Gene, Full Gene Analysis Aliases Hexosaminidase Hexosaminidase A Tay-Sachs Tay-Sachs disease (TSD) TSD (Tay-Sachs disease) HEXMS Tay Sachs Testing Algorithm Tay-Sachs and Related Disorders Diagnostic Testing Algorithm Specimen Type Temperature Time Special Container Varies Ambient (preferred) Frozen Refrigerated Test May 30, 2023 · Bidirectional sequence analysis is performed to test for the presence of a mutation in all coding regions and intron/exon boundaries of the beta-hexosaminidase A gene (HEXA). 1 + /C- (K)DYK or the vector of your choice as an expression/transfection-ready ORF 76033-0 HEXA gene full mutation analysis in Blood or Tissue by Sequencing Active Part Descriptions LP150045-5 Sequencing Sequencing is a method used to determine the sequence of individual genes, larger genetic regions (i. Jun 5, 2019 · Research in the late 20th century demonstrated that Tay-Sachs disease is caused by a genetic mutation on the HEXA gene on chromosome 15. Test ID HEXAZ Tay-Sachs Disease, HEXA Gene, Full Gene Analysis, Varies Useful For Second-tier test for confirming a biochemical diagnosis of Tay-Sachs disease (TSD) Carrier testing of individuals with a family history of TSD but an affected individual is not available for testing or disease-causing mutations have not been identified Clinical features Mutations of the HEXA gene encoding the α subunit of HexA are the genetic basis of Tay–Sachs disease, which in its classic form usually presents with onset of symptoms in infancy. There are three forms of TSD: infantile, juvenile, and late onset/adult form About Tay-Sachs Disease What is Tay-Sachs Disease? Tay-Sachs disease (TSD) is a hereditary condition caused by mutations in the Hex-A gene, leading to a deficiency or absence of the Hex-A enzyme. 1 Functional Associations HEXA has 7,471 functional associations with biological entities spanning 9 categories (molecular profile, organism, disease, phenotype or trait, chemical, functional term, phrase or reference, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 123 datasets. HEXA is located at 15q23. There are 2 isoenzymes of hexosaminidase: Hex-A and Hex-B (HEXB; 606873). Causes Variants in the HEXA gene cause Tay-Sachs disease. org, a curated online repository of HGNC-approved gene nomenclature, gene groups and associated resources including links to genomic, proteomic and phenotypic information. Legend Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Tay–Sachs disease (TSD) is clinically defined by mutations in the HEXA gene, Sandhoff disease by mutations in the HEXB gene, and AB variant gangliosidosis by inactivating mutations in GM2-Activator (Schepers et al. The patients manifest with the macular cherry-red spots due to lipid-laden ganglion cells, hypotonia, low muscle tone, intractable seizures Summary of HEXA expression in human tissue. 52), which is involved in the breakdown of gangliosides. Supplementary test information for Tay-Sachs Disease (HEXA) Sequencing and Deletion/Duplication such as test interpretation, additional tests to consider, and other technical data. Sequence Jul 27, 2025 · Identifying HEXA gene status and diagnosing Tay-Sachs disease involves several methods. (A) Briefly rationalize why this mutation impairs production of full length HEXA protein. Historically, most sequencing has been performed using the chain termination method developed by Test Code HEXAZ Tay-Sachs Disease, HEXA Gene, Full Gene Analysis, Varies Showing cell line RNA expression of HEXA . This enzyme, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl The HEXA gene encodes the alpha subunit of beta-hexosaminidase A and mutations in this gene cause TSD. A significantly higher activity of N-acetyl-beta-D-hexosaminidase in all laryngeal cancer specimens compared with that in healthy tissue homogenates, was observed. Lysosomal expression in several tissues, most abundant in lung and gallbladder. Test Code HEXAZ Tay-Sachs Disease, HEXA Gene, Full Gene Analysis, Varies May 30, 2023 · HEXA Gene, Full Gene Analysis GTR Test ID Help Each Test is a specific, orderable test from a particular laboratory, and is assigned a unique GTR accession number. Over 100 different mutations have been identified in the HEXA gene to date. A couple seeking to conceive learns about their risk for cystic fibrosis. , 1996; Mahuran, 1999). This deficiency causes fatty waste products to accumulate in cells, particularly nerve cells in the brain, causing cell swelling and death. Sep 14, 2016 · The HEXA gene provides instructions for making one part (subunit) of an enzyme called beta-hexosaminidase A. The carrier frequency for this disease in individuals of Ashkenazi Jewish ancestry is 1 in 31. It is caused by the build-up of gangliosides in the brain. DNA samples from 49 subjects (47 enzymatically defined carriers and 2 disease afflicted) who were negative for the four common disease-associated and the two pseudodeficient mutations, were subjected to single Human Gene HEXA (ENST00000566304. Tay-Sachs disease is a progressive pediatric neurodegenerative disorder with symptoms ranging from classic TSD (acute infantile) to subacute juvenile and adult-onset forms that progress more slowly. TSD occurs in approximately 1 in 200,000 live births with a carrier frequency of 1 in 250 to 1 in 300 in the general population. HEXA () protein expression summary. Tay-Sachs Disease, HEXA Gene, Full Gene Analysis, Varies Useful For Mar 17, 2025 · A 2022 study reported a gene therapy trial for infantile Tay-Sachs disease, focusing on safety as the primary endpoint. All approved symbols are stored in the HGNC database, www. Beutler et al. The HEXA Gene: Unraveling Tay-Sachs Disease and its Link to Lipid Metabolism The HEXA gene is a crucial player in both our neurological health and the intricate world of lipid metabolism. 1, 2 In TSD, neuronal accumulation of sphingolipid GM2 gangliosides results in progressive loss of central nervous system function. (Unpublished Mayo method) Aug 6, 2019 · Here, we have characterized 34 enzymatically confirmed TSD families to investigate the presence of novel as well as known variants in HEXA gene. It does not discuss indications for testing and is not intended to replace clinical judgment in decisions to test or care of the tested individual. This test is the recommended test for both diagnostic and carrier testing. [1][2] Hexosaminidase A and the cofactor G M2 activator protein catalyze the degradation of the G M2 gangliosides and other molecules containing The HEXA gene encodes the alpha subunit of beta-hexosaminidase A and mutations in this gene cause TSD. The most common disease-causing mutation in HEXA is a four base pair insertion in exon 11 of the gene (which has 14 exons). When a laboratory updates a registered test, a new version number is assigned. The normal function of HEXA is to degrade GM2 gangliosides in central nervous system cell lysosomes. Tay-Sachs disease is a devastating genetic disorder, resulting from mutations in the HEXA gene. 202 organisms have orthologs with human gene HEXA. 3. The HEXA gene gives the body instructions to make part of the beta-hexosaminidase A enzyme, which is needed to break down a substance called GM2 ganglioside. The mutant mice displayed < 1% of normal beta-hexosaminidase A activity and accumulated GM2 ganglioside in their central nervous system in an age-dependent manner. Click the + buttons to view associations for HEXA The following HEXA gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). c. Nov 14, 2024 · Gene target information for Hex-A - Hexokinase A (fruit fly). Hexosaminidase A (alpha polypeptide), also known as HEXA, is an enzyme that in humans is encoded by the HEXA gene, located on the 15th chromosome. The HEXB gene encodes the beta subunit of the enzyme hexosaminidase (EC 3. Three GM2 gangliosidoses have been Yes Reporting Name HEXA Gene, Full Gene Analysis Aliases Hexosaminidase Hexosaminidase A Tay-Sachs Tay-Sachs disease (TSD) TSD (Tay-Sachs disease) HEXMS Tay Sachs Testing Algorithm Tay-Sachs and Related Disorders Diagnostic Testing Algorithm Specimen Type Temperature Time Special Container Varies Ambient (preferred) Frozen Refrigerated Test Test Code HEXAZ Tay-Sachs Disease, HEXA Gene, Full Gene Analysis, Varies Jan 21, 2015 · The HEXA gene product was identified in 1969 as the α-subunit of β-hexosaminidase enzyme (HEXA). For each known human gene we approve a gene name and symbol (short-form abbreviation). A functionally similar system, called Mut, operates in Escherichia UniProt is the world's leading high-quality, comprehensive and freely accessible resource of protein sequence and functional information. Dec 1, 2020 · Tay-Sachs Disease (TSD) is a genetic disorder resulting from mutations in the HEXA gene. This screening typically involves a blood test for beta-hexosaminidase A enzyme activity or a DNA test for HEXA gene alterations. Find the latest published documents for hexa gene, Related hot topics, top authors, the most cited documents, and related journals The test reveals a mutation in the HEXA gene, confirming her carrier status. There are links to the lab to order the test and links to practice guidelines and authoritative resources like GeneReviews, PubMed, MedlinePlus, PharmGKB to support the clinician's informed test selection. The HEXA gene provides instructions for making one part (the alpha subunit) of an enzyme called beta-hexosaminidase A. Sep 14, 2016 · Gene target information for HEXA - hexosaminidase subunit alpha (human). Loss of function in either subunit of HexA or its adaptor protein can lead to GM2 gangliosidosis. The changed HEXA gene coded for a HEXA enzyme that does not work. Dec 7, 2023 · The HEXA gene is a protein encoding gene that codes for the lysosomal enzyme beta-hexosaminidase, which is responsible for the breakdown of ganglioside GM2 within the lysosome. genenames. Dec 1, 2020 · Tay-Sachs disease (TSD) is a neurodegenerative disease that is caused by mutations in the HEXA gene. This gene encodes a member of the glycosyl hydrolase 20 family of proteins. Test Code HEXAZ Tay-Sachs Disease, HEXA Gene, Full Gene Analysis, Varies Test Code HEXAZ Tay-Sachs Disease, HEXA Gene, Full Gene Analysis, Varies Aug 15, 2023 · Learn more about Tay-Sachs disease, including information on the catalog of genes and diseases, genetic testing, research studies, inheritance, patient support resources, and additional information. This enzyme, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. The HEXA gene is a protein encoding gene that codes for the lysosomal enzyme beta-hexosaminidase. Jul 27, 2025 · The HEXA gene codes for the alpha subunit of the beta-hexosaminidase A enzyme. The format is GTR00000001. Test Code HEXAZ Tay-Sachs Disease, HEXA Gene, Full Gene Analysis, Varies Useful For Second-tier test for confirming a biochemical diagnosis of Tay-Sachs disease (TSD) Carrier testing of individuals with a family history of TSD but an affected individual is not available for testing or disease-causing mutations have not been identified Feb 8, 2025 · Gene target information for HEXB - hexosaminidase subunit beta (human). thaliana, and rice. However, deficiencies or reduced activities of HEXA and HEXB result in Sandhoff disease. This enzyme functions within cellular compartments called lysosomes. Test Definition: HEXAZ Tay-Sachs Disease, HEXA Gene, Full Gene Analysis, Varies Oct 4, 2024 · Introduction Tay-Sachs disease (TSD) is the most common genetic disorder among GM2 gangliosidoses (1). Test Code HEXAZ Tay-Sachs Disease, HEXA Gene, Full Gene Analysis, Varies Useful For Second-tier test for confirming a biochemical diagnosis of Tay-Sachs disease (TSD) Carrier testing of individuals with a family history of TSD but an affected individual is not available for testing or disease-causing mutations have not been identified Bidirectional sequence analysis is performed to test for the presence of a mutation in all coding regions and intron/exon boundaries of the beta-hexosaminidase A gene (HEXA). e. Methods: Subjects included participants in the California Tay-Sachs disease prevention program. Tay-Sachs disease (TSD) is an autosomal recessive lysosomal storage disorder caused by mutations of the HEXA gene resulting in the deficiency of hexosaminidase A (Hex A) and subsequent neuronal accumulation of G_M2 gangliosides. Detected mutations in the HEXA gene through gene sequencing and, by combining the HEXA enzyme assay and the HEXA gene sequencing assay, were able to clarify Tay Sachs carrier status. The HEXA gene encodes the alpha subunit of beta-hexosaminidase A and mutations in this gene cause TSD. They opt for genetic testing, which identifies a mutation in the CFTR gene in one partner. Beta-hexosaminidase is composed of two subunits Cell atlas. The HEXA gene provides instructions for making one part (subunit) of an enzyme called beta-hexosaminidase A. A large number of HEXA mutations have been discovered, and Mar 26, 2025 · The HEXA gene is responsible for the structure of the HEXA protein, which is a subunit of the hexosaminidase A enzyme. Genetic basis a. clusters of genes or operons), full chromosomes or entire genomes. A genetic diagnosis of TSD May 9, 2024 · This monograph discusses implications of genetic test results for the HEXA gene, which encodes the alpha subunit of beta-hexosaminidase A, the enzyme that is deficient in Tay-Sachs disease (TSD). It is caused by pathogenic mutations in the hexA gene, leading to a deficiency of the enzyme β -hexosaminidase A (HexA), which is responsible for processing GM2 ganglioside into GM3 ganglioside in lysosomes (2, 3). Two patients received AAVrh8-HEXA and AAVrh8-HEXB gene therapy. The HEXA gene (hexosaminidase A (alpha polypeptide)) [HGNC Gene ID:4878] is located on chromosome 15q24. png HEXA gene is located on the long (q) arm of chromosome 15 at position 24. There are 2 isoenzymes of hexosaminidase: Hex-A, which is encoded by the HEXA gene (606869), and Hex-B. Despite normal transcription of this allele, HEXA mRNA is severely reduced, indicating that the HEXA transcript must be unstable. Explore the causes and frequency of this genetic disorder associated with the HEXA gene. Mutations in The HGNC is a resource for approved human gene nomenclature containing ~42000 gene symbols and names and 1300+ gene families and sets CANCER BLOOD CELL LINE STRUCT & INT HEXA () protein expression summary. GeneCards - The Human Gene Compendium Oct 6, 2024 · Tay-Sachs disease is an autosomal recessive disorder caused by a mutation in HEXA, which encodes the enzymes beta-hexosaminidase A. The HEXA gene is located on the long (q) arm of human chromosome 15, between positions 23 and 24. It holds the instructions for creating an essential enzyme called hexosaminidase A (Hex-A), which is responsible for breaking down a fatty substance called GM2 ganglioside within our brain and nerve cells The HEXA gene encodes the alpha subunit of beta-hexosaminidase A and mutations in this gene cause TSD. Test Code HEXAZ Tay-Sachs Disease, HEXA Gene, Full Gene Analysis, Varies Official symbol: HEXA Full name: hexosaminidase subunit alpha Location: 15q23 Also known as: Entrez ID: 3073 Ensembl ID: ENSG00000213614 Summary: Test Code HEXAZ Tay-Sachs Disease, HEXA Gene, Full Gene Analysis, Varies Test Code HEXAZ Tay-Sachs Disease, HEXA Gene, Full Gene Analysis, Varies GM2 gangliosidoses are a group of pathologies characterized by GM2 ganglioside accumulation into the lysosome due to mutations on the genes encoding for the β-hexosaminidases subunits or the GM2 activator protein. The Hex system of heteroduplex DNA base mismatch repair operates in Streptococcus pneumoniae after transformation and replication to correct donor and nascent DNA strands, respectively. The encoded preproprotein is proteolytically processed to generate the alpha subunit of the lysosomal enzyme beta-hexosaminidase. Linkage analysis of polymorphic markers such as single nucleo… Oct 10, 1994 · Through the targeted disruption of the mouse Hexa gene in embryonic stem cells, we have produced mice with biochemical and neuropathologic features of Tay-Sachs disease. : GTR000593323. 5) from GENCODE V38 3. Abstract Tay-Sachs disease (TSD) is a catastrophic neurodegenerative disorder caused by mutations in the HEXA gene. [2] A boy had the changed HEXA gene on the chromosome number 15 that he inherited from his father. . Mar 3, 1993 · We describe the cloning of a novel homeodomain-containing gene, which is highly conserved between mouse and human. These mutation cause low or absent activity of the enzyme beta-hexosaminidase A which leads to GM2 build up in brain and spinal cells causing muscle weakness, regression of milestones, and difficulty with mobility. b. Carrier screening is common for individuals or couples considering a family, especially in higher-risk populations. The affected child would have received a Sep 20, 2024 · Abstract Tay-Sachs disease or GM2 gangliosidosis, is caused by a deficiency of beta-hexosaminidase A (HEXA), resulting in lysosomal accumulation of GM2 ganglioside. There are many mutations of the HEXA gene that result in Tay-Sachs and many that seem to have no RefSeq Summary (NM_000520): This gene encodes a member of the glycosyl hydrolase 20 family of proteins. HEXA gene / cDNA is a protein-coding gene which located on 15q23. More than 80 different variants of the HEXA gene have been identified in individuals with Tay-Sachs disease. This, in turn, depends on the molecular characteristics and biological impact of the HEXA pathogenic variants. Lysosomes break down and recycle waste materials. Cloning and Expression Mar 13, 2023 · HEXA is the only gene, up to date, described in association with TSD, this highlights the importance of NGS technology, WGS, for the detection of the full spectrum of the associated disease-causing variants involving intragenic, deep intronic or copy number variations in TSD patients that proved mutations’ negative in Sanger sequencing. This enzyme, combined with the GM2 activator protein, is responsible for the breakdown of ganglioside GM2 within the lysosome. Test Code HEXAZ Tay-Sachs Disease, HEXA Gene, Full Gene Analysis, Varies Test Code HEXAZ Tay-Sachs Disease, HEXA Gene, Full Gene Analysis, Varies Test Code HEXAZ Tay-Sachs Disease, HEXA Gene, Full Gene Analysis, Varies Useful For Second-tier test for confirming a biochemical diagnosis of Tay-Sachs disease (TSD) Carrier testing of individuals with a family history of TSD but an affected individual is not available for testing or disease-causing mutations have not been identified The HEXA gene encodes the alpha subunit of beta-hexosaminidase A and mutations in this gene cause TSD. The most common TSD allele worldwide contains a 4-bp insertion in exon 11 that produces a downstream premature termination codon. Purpose: To characterize novel mutations in the HEXA gene (α-subunit β-hexosaminidase A). Showing subcellular location of HEXA (). A number sign (#) is used with this entry because Tay-Sachs disease (TSD) is caused by homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA; 606869) on chromosome 15q23. The miniature images are clickable and link directly to the respective section. Tay–Sachs disease is inherited in an autosomal recessive pattern. (1975) concluded that Hex-A has the structure alpha-beta, whereas Hex-B has the structure beta-beta. 1. HEXA disorders are best considered as a disease continuum based on the amount of residual beta-hexosaminidase A (HEX A) enzyme activity. These sequences represent the protein coding region of the HEXA cDNA ORF which is encoded by the open reading frame (ORF) sequence. Test Code HEXAZ Tay-Sachs Disease, HEXA Gene, Full Gene Analysis, Varies Summary of HEXA expression in human tissue. Mutations in the HEXA gene (on chromosome 15q23-q24) that codes for the subunit of the β-hexosaminidases result in the deficiency of Hex A (αβ) that results in Tay-Sachs disease. Infantile TSD is a devastating and fetal neurodegenerative di … Test Code HEXAZ Tay-Sachs Disease, HEXA Gene, Full Gene Analysis, Varies Open full size Hexa Gene - Hexa Gene Chromosome 15. Different assays that were carried out for the protein. Learn about this gene and related health conditions. Find diseases associated with this biological target and compounds tested against it in bioassay experiments. Testing begins with enzyme analysis and when indicated reflexes to the appropriate molecular analysis (either HEXA or HEXB gene), which includes next-generation sequencing to detect single nucleotide and copy number variants. The human cDNA was initially isolated from human haematopoietic tissue and denoted HEX (haematopoietically expressed homeobox). Tay-Sachs disease is caused by genetic changes in the HEXA gene and inheritance is autosomal recessive. How to say hexa gene in English? Pronunciation of hexa gene with 24 audio pronunciations and more for hexa gene. Located on the long arm of chromosome 15, the HEXA gene contains genetic information that encodes for a particular protein involved in the formation of the enzyme’s alpha subunit. 5) from GENCODE V38Human Gene HEXA (ENST00000566304. ORF sequences can be delivered in our standard vector, pcDNA3. (1975) concluded that Hex-A has the structure alpha-beta, while Hex-B has the structure beta-beta. This gene has 18 transcripts (splice variants), 187 orthologues, 1 paralogue and is associated with 7 phenotypes. May 30, 2023 · Clinical Molecular Genetics test for Tay-Sachs disease and using Sequence analysis of the entire coding region, Bi-directional Sanger Sequence Analysis offered by Mayo Clinic Laboratories. Jul 17, 2025 · This gene encodes a member of the glycosyl hydrolase 20 family of proteins. Minigenes of HEXA HEXA gene — HEXA encodes the alpha subunit of beta-hexosaminidase A (also called hexosaminidase A), an enzyme in lysosomes that breaks down gangliosides (glycolipids derived from neuronal membranes). Jul 17, 2025 · Complete information for HEXB gene (Protein Coding), Hexosaminidase Subunit Beta, including: function, proteins, disorders, pathways, orthologs, and expression. Tay–Sachs disease is an autosomal recessive genetic disorder, meaning that when both parents are carriers, there is a 25% risk of giving birth to an affected child with each pregnancy. Order Code HEXAZ Tay-Sachs Disease, HEXA Gene, Full Gene Analysis, Varies LOINC Part Code LP30742-8 HEXA geneHEXA gene The HEXA gene is located on chromosome 15q23 and encodes the alpha subunit of beta-hexosaminidase, which is responsible for the degradation of GM2 gangliosides and other molecules containing terminal N-acetyl hexosamines. Download transparent PNG image and share SeekPNG with friends! The Invitae Tay-Sachs Disease test analyzes HEXA, the gene known to be associated with Tay-Sachs disease (TSD). May 31, 2022 · Clinical Molecular Genetics test for Tay-Sachs disease and using Sequence analysis of the entire coding region, Bi-directional Sanger Sequence Analysis offered by Mayo Clinic Laboratories. File:HEXA location. More than 130 mutations have been identified, including single gene deletions, substitution, insertion splicing alteration, duplication, and complex gene rearrangements. Beta-hexosaminidase is composed of two subunits, alpha and beta, which are encoded by the genes HEXA and HEXB, respectively Title: - Also known as: - Full name: - Gene type: - Refseq status: - Gene size: - Exon count: - Organism: - Summary: - Expression: - Ortholog (s): - - Function Genome Expression Protein Variation Sequence Phenotype Number Description Literature *Project: Dropdown Project title: - Accession and Version Protein OMIM Type Source MedGen Comments Test Code HEXAZ Tay-Sachs Disease, HEXA Gene, Full Gene Analysis, Varies Useful For Second-tier test for confirming a biochemical diagnosis of Tay-Sachs disease (TSD) Carrier testing of individuals with a family history of TSD but an affected individual is not available for testing or disease-causing mutations have not been identified The HEXA gene encodes the alpha subunit of beta-hexosaminidase A and mutations in this gene cause TSD. A newborn is screened for phenylketonuria (PKU) after showing symptoms of developmental delays. Inheriting two variant copies of the gene (homozygotes) causes a deficiency of the hexosaminidase A enzyme. Clinical Molecular Genetics test for Tay-Sachs disease and using Sequence analysis of the entire coding region, Bi-directional Sanger Sequence Analysis offered by Mayo Clinic Laboratories. The lifespan varies from shortened to unaffected. wvy ifvv cfj dqdq lymo gqvq uadr euia sousa ymaysn

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