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Description for Protein MTHFR

methylenetetrahydrofolate reductase (NAD(P)H)
1 total interacting proteins;
Icon Book Platelet Evidence (proteome studies/others : 1/0)
(platelet: 5)
Summary:
The protein encoded by this gene catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine. Genetic variation in this gene influences susceptibility to occlusive vascular disease, neural tube defects, colon cancer and acute leukemia, and mutations in this gene are associated with methylenetetrahydrofolate reductase deficiency. (PubMed Links)
Domains and Motifs:
None Available
Gene Ontology:
Gene Ontology Annotations
KEGG - Enzyme ID(s):
1.5.1.20
KEGG - Orthology:
K00297
KEGG - Pathway(s):
hsa00670; hsa01100
(The yellow boxes represents platelet proteins)
Nomenclature / Alternative Names:
Methylenetetrahydrofolate reductase; 5,10 methylenetetrahydrofolate reductase (NADPH)
Approved Symbol:
MTHFR
(De-) Phosphorylations:
Total (de-) phosphorylation sites: 8
Human (de-) phosphorylation sites: 8; 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):

  • Tetrahydrofolic acid(db)

    Associated Genetic Diseases:

  • Homocystinuria due to MTHFR deficiency(Pd);
  • MTHFR thermolabile polymorphism(Pd);
  • Nitrous oxide sensitivity in MTHFR deficiency(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 06158 Entrez Gene ID: 4524 OMIM ID: 607093 Swissprot Accession: P42898; Q8IU67; Q59GJ6;