Gene Symbol | MMAA |
Entrez Gene ID | 166785 |
Full Name | methylmalonic aciduria (cobalamin deficiency) cblA type |
Synonyms | cblA |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(Human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Methylmalonic aciduria, vitamin B12-responsive, 251100 (3) |