MMUT, methylmalonyl-CoA mutase

MMUT, methylmalonyl-CoA mutase

• 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, Jul 2008]

• Gene Synonyms (MCM, MUT, methylmalonyl-CoA mutase, mitochondrial, methylmalonyl Coenzyme A mutase, methylmalonyl-CoA isomerase, methylmalonyl-CoA mutase c.*192delA, methylmalonyl-CoA mutase c.*51C>G, methylmalonyl-CoA mutase variant c.1495G>A, methylmalonyl-CoA mutase variant c.2011A>G, methylmalonyl-CoA mutase variant c.2150G>T, methylmalonyl-CoA mutase variant c.322C>T, methylmalonyl-CoA mutase variant c.613_615delGAA, methylmalonyl-CoA mutase variant c.636G>A, methylmalonyl-CoA mutase variant c.643G>A, mutant methylmalonyl CoA mutase, truncated methylmalonyl CoA mutase, truncated methylmalonyl-CoA mutase variant c.1420C>T, truncated methylmalonyl-CoA mutase variant c.2179C>T, truncated methylmalonyl-CoA mutase variant c.91C>T,)
• NCBI Gene ID: 4594
• Species: Homo sapiens (Human)
• UNIPROT ID#>>A0A024RD82
  UNIPROT ID#>>P22033
  UNIPROT ID#>>B2R6K1
• View the NCBI Database for this Gene »

Gene products are often involved in multiple pathways and networks within a living cell. Learn more about other interacting partners.

methylmalonyl-CoA mutase interacts with:

• estrogen related receptor, beta
  GrpE like 2, mitochondrial
  metabolism of cobalamin associated A
  methylmalonyl-CoA mutase
  neurotrophic receptor tyrosine kinase 1
  oxidoreductase like domain containing 1
  pyruvate dehydrogenase kinase 1
  Rho guanine nucleotide exchange factor 26
  trans-L-3-hydroxyproline dehydratase
  transmembrane protein 184A

Paste a protein or nucleic acid sequence in the box below to confirm that it matches this gene’s reference sequence(s). Click on a link under RELATED ORF CLONES to see how a sequence matches to an experimentally-validated ORF clone.