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MMADHC / C2orf25 is 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.
Gene Name: | methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria |
Synonyms: | MMADHC, C2orf25, CblD, CL25022, Protein C2orf25, mitochondrial |
Target Sequences: | NM_015702 NP_056517.1 Q9H3L0 |
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