| Gene Symbol | MMAA |
| Entrez Gene ID | 166785 |
| Full Name | methylmalonic aciduria (cobalamin deficiency) cblA type |
| Synonyms | cblA |
| General protein information |
|
| 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) |








































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