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Description for Protein GLA

galactosidase, alpha
2 total interacting proteins; 1 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 1/0)
(platelet: 1)
Summary:
This gene encodes a homodimeric glycoprotein that hydrolyses the terminal alpha-galactosyl moieties from glycolipids and glycoproteins. This enzyme predominantly hydrolyzes ceramide trihexoside, and it can catalyze the hydrolysis of melibiose into galactose and glucose. A variety of mutations in this gene affect the synthesis, processing, and stability of this enzyme, which causes Fabry disease, a rare lysosomal storage disorder that results from a failure to catabolize alpha-D-galactosyl glycolipid moieties. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • SP: Signal Peptide
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    3.2.1.22
    KEGG - Orthology:
    K01189
    KEGG - Pathway(s):
    hsa00052; hsa00561; hsa00600; hsa00603; hsa04142
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    Alpha galactosidase A; Alpha-D galactosidase A
    Approved Symbol:
    GLA
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 0
    No human (de-) phosphorylation sites; 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):

  • Alpha-D-Mannose(db);
  • Fucose(db)

    Associated Genetic Diseases:

    None Available
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 02357 Entrez Gene ID: 2717 OMIM ID: 300644 Swissprot Accession: Q53Y83; P06280;