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Description for Protein MUT

methylmalonyl CoA mutase
2 total interacting proteins; 2 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 1/0)
(platelet: 1)
Summary:
This gene encodes the mitochondrial enzyme methylmalonyl Coenzyme A mutase. In humans, the product of this gene is a vitamin B12-dependent enzyme which catalyzes the isomerization of methylmalonyl-CoA to succinyl-CoA, while in other species this enzyme may have different functions. Mutations in this gene may lead to various types of methylmalonic aciduria. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
None Available
Gene Ontology:
Gene Ontology Annotations
KEGG - Enzyme ID(s):
5.4.99.2
KEGG - Orthology:
K01847
KEGG - Pathway(s):
hsa00280; hsa00640; hsa01100
(The yellow boxes represents platelet proteins)
Nomenclature / Alternative Names:
MCM; Methylmalonyl-CoA Mutase; Methylmalonyl-CoA mutase, mitochondrial; Complementation group mut; EC 5.4.99.2
Approved Symbol:
MUT
(De-) Phosphorylations:
Total (de-) phosphorylation sites: 2
Human (de-) phosphorylation sites: 2; 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):

  • Cyanocobalamin(db);
  • Hydroxocobalamin(db)

    Associated Genetic Diseases:

  • Methylmalonic aciduria, mut(-) type(Pd);
  • Methylmalonic aciduria, mut(Pd) type(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 02014 Entrez Gene ID: 4594 OMIM ID: 609058 Swissprot Accession: P22033;