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FLASH GENE
Symbol HEXB contributors: mct/npt - updated : 10-02-2009
HGNC name hexosaminidase B (beta polypeptide)
HGNC id 4879
Corresponding disease
HEXB Sandhoff disease
Location 5q13.3      Physical location : 73.980.968 - 74.017.111
Synonym name
  • ectodermal-neural cortex (with BTB-like domain), antisens transcript
  • cervical cancer proto-oncogene 7 protein
  • N-acetyl-beta- glucosaminidase
    • Synonym symbol(s) ENC1AS , ENC-1AS, HCC-7
    EC.number 3.2.1.52
    DNA
    TYPE functioning gene
    SPECIAL FEATURE opposite orientation
    text opposite orientation with ENC1
    STRUCTURE 36.10 kb     14 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    motif
    MAPPING cloned Y linked Y status confirmed
    Map see ENC1
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    14 splicing 1919 - 556 - Hammarsund, Magini (2008)
    - splicing 611 - - various tumor Hammarsund
    containing an alternative 5' exon
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveesophagus   highly
    Nervousbrain    
    Reproductivefemale systemplacenta  predominantly
     male systemprostate  highly
    Urinarykidney   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelial    
    Nervouscentral   
    Nervousperipherous   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    Homologene
    FAMILY
  • glycosyl hydrolase 20 family
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,organelle,lysosome
    intracellular,cytoplasm,cytosolic
    text in the cytosol and PM (plasma membrane) (Magini (2008)
    basic FUNCTION
  • hydrolyzing glycoproteins, glucosaminoglycans, glycolipids
  • soluble glycohydrolase involved in glycoconjugate degradation in lysosomes (Magini 2008)
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism carbohydrate , lipid/lipoprotein
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • can utilize GM2 ganglioside as a substrate, but requires GM2A to bind GM2 ganglioside and then interact with the enzyme, placing the terminal GalNAc residue in the active site of the alpha-subunit (
    • cell & other
    REGULATION
    Other targeted to the lysosome by M6P receptor mediated pathway
    ASSOCIATED DISORDERS
    corresponding disease(s) HEXB
    related resource HEXB Locus Database
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS