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Hexa gene full name. Learn about this gene and related health conditions.
Hexa gene full name. Testing for these mutations is available as a panel, TSDP / Tay 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 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 Test Code HEXAZ Tay-Sachs Disease, HEXA Gene, Full Gene Analysis, Varies The HEXA gene is located on chromosome 15q23-q24 and encodes the α-subunit of β-hexosaminidase A, an enzyme found in lysosomes. TSD occurs in approximately 1 in 200,000 live births with a carrier frequency of 1 in Several common mutations in the HEXA gene account for 92% of disease-causing mutations in the Ashkenazi Jewish population. Identifying HEXA gene status and diagnosing Tay-Sachs disease involves several methods. Learn about this gene and related health conditions. TSD occurs in approximately 1 in 200,000 live births with a carrier frequency of 1 in 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 encoded preproprotein is proteolytically processed to generate the alpha subunit of Several common mutations in the HEXA gene account for 92% of disease-causing mutations in the Ashkenazi Jewish population. Specifically, the protein produced from the HEXA gene forms the Gene: HEXA ENSG00000213614 Description hexosaminidase A (alpha polypeptide) [Source:HGNC Symbol;Acc: 4878] The HEXA gene (hexosaminidase A (alpha polypeptide)) [HGNC Gene ID:4878] is located on chromosome 15q24. [5][6][7] Hexosaminidase B is the beta subunit of the lysosomal enzyme beta-hexosaminidase Cell atlas. It is caused by pathogenic mutations in Sources The names (symbols) and full descriptions used in Gene come from 5 major sources: 1. The Reading-frame checker generates a prediction of the 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 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). This enzyme functions within cellular compartments called lysosomes. Carrier screening is common for individuals or couples considering a family, especially Functional Associations HEXA has 7,471 functional associations with biological entities spanning 9 categories (molecular profile, organism, disease, phenotype or trait, chemical, functional term, Title: - Also known as: - Full name: - Gene type: - Refseq status: - Gene size: - Exon count: - Organism: - Summary: - Expression: - Ortholog (s): - - Function Genome Expression Protein The HEXA gene provides instructions for making one part (subunit) of an enzyme called beta-hexosaminidase A. 2. HEXA (Hexosaminidase Subunit Alpha) is a Protein Coding gene. 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 HEXA gene gives the body Several common mutations in the HEXA gene account for 92% of disease-causing mutations in the Ashkenazi Jewish population. Different assays that were carried out for the protein. Explore the role of the HEXA gene in Tay-Sachs disease. 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. Find diseases associated with this biological target and compounds tested against it in bioassay Several common mutations in the HEXA gene account for 92% of disease-causing mutations in the Ashkenazi Jewish population. Testing for these mutations is available as a panel, TSDP / Tay Mayo Test ID HEXAZ Tay-Sachs Disease, HEXA Gene, Full Gene Analysis, Varies Shipping Instructions Specimen preferred to arrive within 96 hours of draw. Testing for these mutations is available as a panel, TSDP / Tay The HEXA gene encodes the alpha subunit of beta-hexosaminidase A and mutations in this gene cause TSD. Species-specific nomenclature committees, with great appreciation, as enumerated Part Name HEXA gene Part Display Name HEXA gene Part Type Component (Describes the core component or analyte measured) Created On 2002-10-02 Construct for LOINC Short Name Learn more about Tay-Sachs disease, including information on the catalog of genes and diseases, genetic testing, research studies, inheritance, P06865 · HEXA_HUMAN Protein Beta-hexosaminidase subunit alpha Gene HEXA Status UniProtKB reviewed (Swiss-Prot) Long Common Name HEXA gene full mutation analysis in Blood or Tissue by Sequencing Short Name HEXA gene Full Mut Anl Bld/T Seq Display Name HEXA gene full mutation analysis 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 Tay-Sachs disease is an autosomal recessive disorder affecting the central nervous system. Learn about the different forms of TSD, available treatments, and ongoing research for this rare genetic 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 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 File:HEXA location. Showing subcellular location of HEXA (). Mutations in HEXA disrupt Hex A activity, The following HEXA gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). Another fairly common mutation is a splice The coding sequence (CDS) of the HEXA gene mRNA ref ers specifically to Beta-hexosaminidase subunit beta is an enzyme that in humans is encoded by the HEXB gene. Lysosomal expression in several tissues, most abundant in lung and gallbladder. Specimen Required Patient 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). These sequences represent the protein coding region of the Tay-Sachs disease Tay-Sachs disease (TSD), a fatal condition, is a neurodegenerative lysosomal sphingolipid storage disorder. TSD occurs in approximately 1 in 200,000 live births with a carrier frequency of 1 in Normal Function The HEXA gene provides instructions for making one part (subunit) of an enzyme called beta-hexosaminidase A. Showing cell line RNA expression of HEXA . TSD occurs in approximately 1 in 200,000 live births with a carrier frequency of 1 in Gene target information for HEXA - hexosaminidase subunit alpha (human). Below, a more detailed description is The HEXA gene is responsible for the structure of the HEXA protein, which is a subunit of the hexosaminidase A enzyme. Search for genes and functional terms extracted and organized from over a hundred publicly available resources. Lysosomes break down The HEXA gene provides instructions for making one part (subunit) of an enzyme called beta-hexosaminidase A. Testing for these mutations is available as a panel, TSDP / Tay The HEXA gene is a protein encoding gene that codes for the lysosomal enzyme beta-hexosaminidase, which is responsible for the breakdown RefSeq Summary (NM_000520): This gene encodes a member of the glycosyl hydrolase 20 family of proteins. The disorder results from mutations in the gene encoding the alpha-subunit of beta-hexosaminidase Summary of HEXA expression in human tissue. More than 80 different The HEXA gene encodes the alpha subunit of beta-hexosaminidase A and mutations in this gene cause TSD. Testing for these mutations is available as a panel, TSDP / Tay Tay-Sachs Disease, HEXA Gene, Full Gene Analysis, Varies Special Instructions Molecular Genetics: Biochemical Disorders Patient Information Informed Consent for Genetic Testing Tay Official Symbol HEXB provided by HGNC Official Full Name hexosaminidase subunit beta provided by HGNC Primary source Introduction Tay-Sachs disease (TSD) is the most common genetic disorder among GM2 gangliosidoses (1). TSD is caused by The HEXA gene encodes the alpha subunit of beta-hexosaminidase A and mutations in this gene cause TSD. The HEXA gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, A. Hexosaminidase A (alpha polypeptide), also known as HEXA, is an enzyme that in humans is 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. The HEXA gene encodes the alpha subunit of hexosaminidase A (EC 3. Testing for these mutations is available as a panel, TSDP / Tay Test Code HEXAZ Tay-Sachs Disease, HEXA Gene, Full Gene Analysis, Varies The lifespan varies from shortened to unaffected. png HEXA gene is located on the long (q) arm of chromosome 15 at position 24. The format is Several common mutations in the HEXA gene account for 92% of disease-causing mutations in the Ashkenazi Jewish population. 52), a lysosomal enzyme involved in the breakdown of gangliosides. 1. Testing for these mutations is available as a panel, TSDP / Tay Test Code HEXAZ Tay-Sachs Disease, HEXA Gene, Full Gene Analysis, Varies Summary Help Official Symbol HEXA provided by HGNC Official Full Name hexosaminidase subunit alpha provided by HGNC Primary source HGNC:HGNC:4878 See 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 Several common mutations in the HEXA gene account for 92% of disease-causing mutations in the Ashkenazi Jewish population. TSD occurs in approximately 1 in 200,000 live births with a carrier frequency of 1 in Test Code HEXAZ Tay-Sachs Disease, HEXA Gene, Full Gene Analysis, Varies Test Definition: 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 Several common mutations in the HEXA gene account for 92% of disease-causing mutations in the Ashkenazi Jewish population. The disease can potentially occur from the inheritance of two unrelated mutations in the 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 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 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 Protein structure for human protein HEXA Purpose: To characterize novel mutations in the HEXA gene (α-subunit β-hexosaminidase A). Tay-Sachs disease is caused by genetic changes in the HEXA gene and inheritance is autosomal recessive. 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 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 The HEXA gene encodes the alpha subunit of beta-hexosaminidase A and mutations in this gene cause TSD. Testing for these mutations is available as a panel, TSDP / Tay Several common mutations in the HEXA gene account for 92% of disease-causing mutations in the Ashkenazi Jewish population. Diseases associated with HEXA include Tay-Sachs Disease and Gm2 The HEXA gene provides instructions for making one part (subunit) of an enzyme called beta-hexosaminidase A. thaliana, and 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 Most HEXA mutations are rare, and do not occur in genetically isolated populations. Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland. Methods: Subjects included participants in the California Tay . Specifically, the protein produced from the HEXA gene forms the alpha HEXA gene / cDNA is a protein-coding gene which located on 15q23. Test Code HEXAZ Tay-Sachs Disease, HEXA Gene, Full Gene Analysis, Varies Yes Reporting Name HEXA Gene, Full Gene Analysis Aliases Lists additional common names for a test, as an aid in searching Hexosaminidase Hexosaminidase A Tay-Sachs Tay-Sachs disease 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. The miniature images are clickable and link directly to the respective section. There are 2 isoenzymes of hexosaminidase: Hex-A The HEXA gene codes for the alpha subunit of the beta-hexosaminidase A enzyme. Specifically, the protein produced from the HEXA gene forms the This gene has 18 transcripts (splice variants), 187 orthologues, 1 paralogue and is associated with 7 phenotypes. otjyutbwcemnuowstbkvcsruvhhatqvrbmmsoxiibuvvasf