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FLASH GENE
Symbol HEXA contributors: mct/npt - updated : 22-01-2010
HGNC name hexosaminidase A (alpha polypeptide)
HGNC id 4878
Corresponding disease
TSD Tay-Sachs disease
Location 15q23      Physical location : 72.635.778 - 72.668.520
Synonym name
  • GM2 gangliosidosis
  • N-acetyl-beta-glucosaminidase
  • beta-N-acetylhexosaminidase
    • Synonym symbol(s) MGC99608
    EC.number 3.2.1.52
    DNA
    TYPE functioning gene
    STRUCTURE 32.74 kb     14 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    14 - 2437 - 529 - Pennybacker (1996)
    EXPRESSION
    Type ubiquitous
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinelarge intestinecolon moderately
     intestinesmall intestine  predominantly
     pancreas exocrine   moderately
     stomach   highly
    Lymphoid/Immunespleen   highly
    Nervousbrain   highly
    Reproductivefemale systembreastmammary gland moderately
     female systemplacenta  highly
     female systemovary  highly
    Respiratorylung   moderately
    Skin/Tegumentskin   highly
    Urinarykidney   moderately
    Visualeye   moderately
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow   
    Connectivebone   
    Epithelial    
    Nervouscentral   
    Nervousperipherous   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron
    Visualganglion cell
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    conjugated GlycoP
    mono polymer heteromer , dimer , trimer
    isoforms Precursor zymogen
    HOMOLOGY
    interspecies ortholog to murine Hexa
    ortholog to rattus Hexa
    homolog to drosophila Hexo2
    Homologene
    FAMILY
  • glycosyl hydrolase 20 family
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,endoplasmic reticulum ,rough,smooth
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,organelle,lysosome
    basic FUNCTION
  • catalyzing the degradation of glycosphingolipids with terminal alpha-galactosyl residues in most non neuronal tissues and in body fluids
  • hydrolyzing ganglioside GM2, glycoproteins, glycosamino-glycans, glycolipids
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism carbohydrate , lipid/lipoprotein
    signaling
    a component
  • involved in heterotrimer
  • involved in homodimer
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    Other targeted to the lysosome by M6P receptor mediated pathway
    ASSOCIATED DISORDERS
    corresponding disease(s) TSD
    related resource Hexosaminidase A, Tay-Sachs Disease
    Tay Sachs Disease at GeneDis
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS