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Description for Protein HEXA

hexosaminidase A (alpha polypeptide)
2 total interacting proteins;
Icon Book Platelet Evidence (proteome studies/others : 1/1)
(platelet: 4)
Summary:
This gene encodes the alpha 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. Alpha subunit gene mutations lead to Tay-Sachs disease (GM2-gangliosidosis type I). [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:
    Beta hexosaminidase A; N acetyl beta glucosaminidase; Beta N acetylhexosaminidase
    Approved Symbol:
    HEXA
    (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):

    None Available

    Associated Genetic Diseases:

  • beta-hexosaminidase A, pseudodeficiency of(Pd);
  • GM2-gangliosidosis, adult(Pd);
  • GM2-gangliosidosis, adult-onset(Pd);
  • GM2-gangliosidosis, B1 variant(Pd);
  • GM2-gangliosidosis, chronic(Pd);
  • GM2-gangliosidosis, juvenile(Pd);
  • GM2-gangliosidosis, late onset(Pd);
  • GM2-gangliosidosis, subacute(Pd);
  • Tay-Sachs disease(Pd);
  • Tay-Sachs disease, B1 variant(Pd);
  • Tay-Sachs disease, juvenile(Pd);
  • Tay-Sachs disease, juvenile/adult(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 06040 Entrez Gene ID: 3073 OMIM ID: 606869 Swissprot Accession: P06865;