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Description for Protein HEXB

hexosaminidase B (beta polypeptide)
2 total interacting proteins; 1 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 2/1)
(platelet: 2; secretome: 1)
Summary:
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. Beta-hexosaminidase is composed of two subunits, alpha and beta, which are encoded by separate genes. Both beta-hexosaminidase alpha and beta subunits are members of family 20 of glycosyl hydrolases. Mutations in the alpha or beta subunit genes lead to an accumulation of GM2 ganglioside in neurons and neurodegenerative disorders termed the GM2 gangliosidoses. Beta subunit gene mutations lead to Sandhoff disease (GM2-gangliosidosis type II). [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • SP: Signal Peptide
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    3.2.1.52
    KEGG - Orthology:
    K12373
    KEGG - Pathway(s):
    hsa00511; hsa00520; hsa00531; hsa00603; hsa00604; hsa01100; hsa04142
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    HEXB N acetyl beta glucosaminidase; Beta hexosaminidase beta chain; Beta N acetylhexosaminidase
    Approved Symbol:
    HEXB
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 1
    Human (de-) phosphorylation sites: 1; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

  • (2r,3r,4s,5r)-2-Acetamido-3,4-Dihydroxy-5-Hydroxymethyl-Piperidinium(db);
  • 2-Acetamido-2-Deoxy-D-Glucono-1,5-Lactone(db);
  • 3ar,5r,6s,7r,7ar-5-Hydroxymethyl-2-Methyl-5,6,7,7a-Tetrahydro-3ah-Pyrano[3,2-D]Thiazole-6,7-Diol(db)

    Associated Genetic Diseases:

  • HEXB polymorphism(Pd);
  • Hexosaminidase B (Paris)(Pd);
  • Hexosaminidase B, heat-labile polymorphism(Pd);
  • Sandhoff disease(Pd);
  • Sandhoff disease, adult type(Pd);
  • Sandhoff disease, chronic(Pd);
  • Sandhoff disease, infantile(Pd);
  • Sandhoff disease, infantile type(Pd);
  • Sandhoff disease, juvenile type(Pd);
  • Spinal muscular atrophy, juvenile(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 1
    • Additional Identifiers:

    HPRD: 06043 Entrez Gene ID: 3074 OMIM ID: 606873 Swissprot Accession: P07686;