Protein Name | metabolism of cobalamin associated D |
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Organism | Homo sapiens |
Gene ID | 27249 |
Gene Symbol | MMADHC |
UniProt | Q9H3L0 (MMAD_HUMAN) |
Relationships |
Total Number of functionally related compound(s) :
15
Total Number of Articles : 26 |
Description |
metabolism of cobalamin associated D |
Gene Summary |
This gene encodes a mitochondrial protein that is involved in an early step of vitamin B12 metabolism. Vitamin B12 (cobalamin) is essential for normal development and survival in humans. Mutations in this gene cause methylmalonic aciduria and homocystinuria type cblD (MMADHC), a disorder of cobalamin metabolism that is characterized by decreased levels of the coenzymes adenosylcobalamin and methylcobalamin. Pseudogenes have been identified on chromosomes 11 and X.[provided by RefSeq, Nov 2008] |
synonyms |
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Properties | |