Protein Name metabolism of cobalamin associated A
Organism Homo sapiens
Gene ID 166785
Gene Symbol

MMAA

UniProt Q8IVH4 (MMAA_HUMAN)
Relationships Total Number of functionally related compound(s) : 35
Total Number of Articles : 40
Description

metabolism of cobalamin associated A

Gene Summary

The protein encoded by this gene is involved in the translocation of cobalamin into the mitochondrion, where it is used in the final steps of adenosylcobalamin synthesis. Adenosylcobalamin is a coenzyme required for the activity of methylmalonyl-CoA mutase. Defects in this gene are a cause of methylmalonic aciduria. [provided by RefSeq, Jul 2008]

synonyms
  • methylmalonic aciduria type A protein, mitochondrial
  • methylmalonic aciduria (cobalamin deficiency) cblA type
  • mutant adenosylcobalamin
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Properties