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Description for Protein MUTYH

mutY homolog (E. coli)
6 total interacting proteins; 2 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
This gene encodes a DNA glycosylase involved in oxidative DNA damage repair. The enzyme excises adenine bases from the DNA backbone at sites where adenine is inappropriately paired with guanine, cytosine, or 8-oxo-7,8-dihydroguanine, a major oxidatively damaged DNA lesion. The protein is localized to the nucleus and mitochondria. Mutations in this gene result in heritable predisposition to colon and stomach cancer. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • FES: Contains two conserved F residues
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    3.2.2.-
    KEGG - Orthology:
    K03575
    KEGG - Pathway(s):
    hsa03410
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    Human MYH alpha 1; MutY homolog isoform 2; MutY homolog isoform 3; MutY homolog isoform 4; MutY homolog isoform 1
    Approved Symbol:
    MUTYH
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 12
    Human (de-) phosphorylation sites: 12; 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:

  • Colorectal adenomatous polyposis, autosomal recessive(Pd);
  • Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas(Pd);
  • Gastric cancer, sporadic(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 6 : 0
  • Isoform 5 : 0
  • Isoform 4 : 0
  • Isoform 3 : 0
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 05380 Entrez Gene ID: 4595 OMIM ID: 604933 Swissprot Accession: Q9UIF7;