Hexa gene full name. 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. Mar 3, 1993 · We describe the cloning of a novel homeodomain-containing gene, which is highly conserved between mouse and human. The format is GTR00000001. We now know that, whereas Hex B is a homodimer of β-subunits, Hex A is a heterodimer consisting of an α- and a β-subunit. 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 Test Code HEXAZ Tay-Sachs Disease, HEXA Gene, Full Gene Analysis, Varies 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 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 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. 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 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). 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. 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. 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 Jul 1, 2018 · HEXA gene / cDNA is a protein-coding gene which located on 15q23. [1][2] Hexosaminidase A and the cofactor G M2 activator protein catalyze the degradation of the G M2 gangliosides and other molecules containing 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). Find diseases associated with this biological target and compounds tested against it in bioassay experiments. Feb 8, 2025 · Ensembl:ENSG00000213614 MIM:606869; AllianceGenome:HGNC:4878. The HEXA gene is a protein encoding gene that codes for the lysosomal enzyme beta-hexosaminidase. 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. Inheriting two variant copies of the gene (homozygotes) causes a deficiency of the hexosaminidase A enzyme. 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). 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. Beta-hexosaminidase subunit beta is an enzyme that in humans is encoded by the HEXB gene. REVIEWED. Jan 21, 2015 · The HEXA gene product was identified in 1969 as the α-subunit of β-hexosaminidase enzyme (HEXA). Cell atlas. Specifically, the protein produced from the HEXA gene forms the alpha subunit of this enzyme. When a laboratory updates a registered test, a new version number is assigned. This gene encodes a member of the glycosyl hydrolase 20 family of proteins. This enzyme, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Beutler et al. 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. ORF sequences can be delivered in our standard vector, pcDNA3. Feb 8, 2025 · Gene target information for HEXB - hexosaminidase subunit beta (human). There are many mutations of the HEXA gene that result in Tay-Sachs and many that seem to have no The HEXA gene encodes the alpha subunit of beta-hexosaminidase A and mutations in this gene cause TSD. The encoded preproprotein is proteolytically processed to generate the alpha subunit of the lysosomal enzyme beta-hexosaminidase. Number of protein-coding transcripts from the gene as defined by Ensembl. (1975) concluded that Hex-A has the structure alpha-beta, whereas Hex-B has the structure beta-beta. More than 80 different variants of the HEXA gene have been identified in individuals with Tay-Sachs disease. protein coding. Reported data present, for the first time, reference values for urinary activities of HEX and its isoenzymes HEX A and HEX B in children and adolescent. 40 Mar 26, 2025 · The HEXA gene is responsible for the structure of the HEXA protein, which is a subunit of the hexosaminidase A enzyme. This gene has 18 transcripts (splice variants), 187 orthologues, 1 paralogue and is associated with 7 phenotypes. There are 2 isoenzymes of hexosaminidase: Hex-A, which is encoded by the HEXA gene (606869), and Hex-B. A large number of HEXA mutations have been discovered, and 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. Showing cell line RNA expression of HEXA . Thirdly, solid structural data on the isozymes were difficult to obtain. Title: Identification of deletion-duplication in HEXA gene in five children with Tay-Sachs disease from India. 1, 2 In TSD, neuronal accumulation of sphingolipid GM2 gangliosides results in progressive loss of central nervous system function. 202 organisms have orthologs with human gene HEXA. Sequence Test Code HEXAZ Tay-Sachs Disease, HEXA Gene, Full Gene Analysis, Varies Summary of HEXA expression in human tissue. The HEXA gene encodes the alpha subunit of beta-hexosaminidase A and mutations in this gene cause TSD. 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. Two evolutionarily related genes encoded these subunits, α by the HEXA gene (15q23–q24, [9]) and β by the HEXB gene (5q13 [10]). e. 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 Test procedure Help Summary of the test methodology and/ or description of the specific steps for each method used in this assay. 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. A significantly higher activity of N-acetyl-beta-D-hexosaminidase in all laryngeal cancer specimens compared with that in healthy tissue homogenates, was observed. 1, with a leading prefix 'GTR' followed by 8 digits, a period, then 1 or more digits representing the version. Cloning and Expression Test Code HEXAZ Tay-Sachs Disease, HEXA Gene, Full Gene Analysis, Varies Test Code HEXAZ Tay-Sachs Disease, HEXA Gene, Full Gene Analysis, Varies. Lysosomal expression in several tissues, most abundant in lung and gallbladder. This enzyme, combined with the GM2 activator protein, is responsible for the breakdown of ganglioside GM2 within the lysosome. UniProt is the world's leading high-quality, comprehensive and freely accessible resource of protein sequence and functional information. 1 The HEXA gene encodes the alpha subunit of beta-hexosaminidase A and mutations in this gene cause TSD. : GTR000593323. Full gene name according to HGNC. Official gene symbol, which is typically a short form of the gene name, according to HGNC. Tay-Sachs Disease, HEXA Gene, Full Gene Analysis, Varies Useful For Test Code HEXAZ Tay-Sachs Disease, HEXA Gene, Full Gene Analysis, Varies Use of MLPA assay for detecting large copy number changes in the HEXA gene. 2. The miniature images are clickable and link directly to the respective section. Below, a more detailed description is shown per column. 52), a lysosomal enzyme involved in the breakdown of gangliosides. Gene target information for HEXA - hexosaminidase subunit alpha (human). png HEXA gene is located on the long (q) arm of chromosome 15 at position 24. Historically, most sequencing has been performed using the chain termination method developed by The following HEXA gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). 1. Cytogenetic location: 15q23 Genomic coordinates (GRCh38) : 15:72,340,924-72,376,014 (from NCBI) The HEXA gene encodes the alpha subunit of hexosaminidase A (EC 3. The human cDNA was initially isolated from human haematopoietic tissue and denoted HEX (haematopoietically expressed homeobox). 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 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. 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 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. Order Code HEXAZ Tay-Sachs Disease, HEXA Gene, Full Gene Analysis, Varies The HEXA gene encodes the alpha subunit of beta-hexosaminidase A and mutations in this gene cause TSD. These sequences represent the protein coding region of the HEXA cDNA ORF which is encoded by the open reading frame (ORF) sequence. TSD. HGNC Approved Gene Symbol: HEXA. thaliana, and rice. Showing subcellular location of HEXA (). 52), which is involved in the breakdown of gangliosides. Test Code HEXAZ Tay-Sachs Disease, HEXA Gene, Full Gene Analysis, Varies Mar 30, 2025 · Complete information for HEXB gene (Protein Coding), Hexosaminidase Subunit Beta, including: function, proteins, disorders, pathways, orthologs, and expression. clusters of genes or operons), full chromosomes or entire genomes. Symbol:HEXA,Also known as:TSD,Title:HEXA hexosaminidase subunit alpha [ Homo sapiens (human) ],Gene type:protein coding,Assembly:GRCh38. This enzyme, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl The HGNC is a resource for approved human gene nomenclature containing ~42000 gene symbols and names and 1300+ gene families and sets The HEXA gene encodes the alpha subunit of beta-hexosaminidase A and mutations in this gene cause TSD. Another fairly common mutation is a splice junction mutation found at intron twelve (Navon, 1989). 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. Assigned HPA protein class (es) for the encoded protein (s). p14 (GCF_000001405. The HEXA gene provides instructions for making one part (subunit) of an enzyme called beta-hexosaminidase A. Mutations in HEXA () protein expression summary. GeneCards - The Human Gene Compendium 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. Thus, Jewish Tay–Sachs disease results from HEXA mutations The HEXA gene provides instructions for making one part (subunit) of an enzyme called beta-hexosaminidase A. There are 2 isoenzymes of hexosaminidase: Hex-A and Hex-B (HEXB; 606873). Tay–Sachs disease is inherited in an autosomal recessive pattern. The carrier frequency for this disease in individuals of Ashkenazi Jewish ancestry is 1 in 31. Beta-hexosaminidase is composed of two subunits 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. Test Code HEXAZ Tay-Sachs Disease, HEXA Gene, Full Gene Analysis, Varies The HEXA gene encodes the alpha subunit of beta-hexosaminidase A and mutations in this gene cause TSD. Tay-Sachs disease is caused by genetic changes in the HEXA gene and inheritance is autosomal recessive. The lifespan varies from shortened to unaffected. Different assays that were carried out for the protein. 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. 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 Test Code HEXAZ Tay-Sachs Disease, HEXA Gene, Full Gene Analysis, Varies 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. The HEXA gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, A. 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. 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 RefSeq Summary (NM_000520): This gene encodes a member of the glycosyl hydrolase 20 family of proteins. The normal function of HEXA is to degrade GM2 gangliosides in central nervous system cell lysosomes. 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. 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. [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. (Unpublished Mayo method) Test Code HEXAZ Tay-Sachs Disease, HEXA Gene, Full Gene Analysis, Varies Test Code HEXAZ Tay-Sachs Disease, HEXA Gene, Full Gene Analysis, Varies The HEXB gene encodes the beta subunit of the enzyme hexosaminidase (EC 3. File:HEXA location. The HEXA gene is located on the long (q) arm of human chromosome 15, between positions 23 and 24. Easily find HTML color codes for your website using our color picker, color chart and HTML color names with Hex color codes, RGB and HSL values. The affected child would have received a 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 The HEXA gene encodes the alpha subunit of beta-hexosaminidase A and mutations in this gene cause TSD. 1 + /C- (K)DYK or the vector of your choice as an expression/transfection-ready ORF The HEXA gene encodes the alpha subunit of beta-hexosaminidase A and mutations in this gene cause TSD. ncow fah nopwrm wcv ylo qsfixag qqzne itqivt wrtmra aeosm