Protein Name | metabolism of cobalamin associated A |
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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 |
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Properties | |