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Description for Protein PMM2

phosphomannomutase 2
No Interacting Proteins
Icon Book Platelet Evidence (proteome studies/others : 2/0)
(platelet: 2)
Summary:
The protein encoded by this gene catalyzes the isomerization of mannose 6-phosphate to mannose 1-phosphate, which is a precursor to GDP-mannose necessary for the synthesis of dolichol-P-oligosaccharides. Mutations in this gene have been shown to cause defects in glycoprotein biosynthesis, which manifests as carbohydrate-deficient glycoprotein syndrome type I. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • SP: Signal Peptide
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    5.4.2.8
    KEGG - Orthology:
    K01840
    KEGG - Pathway(s):
    hsa00051; hsa00520; hsa01100
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    -
    Approved Symbol:
    PMM2
    (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):

    None Available

    Associated Genetic Diseases:

  • Congenital disorder of glycosylation, type IA(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 03472 Entrez Gene ID: 5373 OMIM ID: 601785 Swissprot Accession: O15305; Q59F02;