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FLASH GENE
Symbol HEXA contributors: mct/npt - updated : 22-01-2010
HGNC name hexosaminidase A (alpha polypeptide)
HGNC id 4878
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