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mmadhc

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Official Full Name
methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria
Background
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.
Synonyms
MMADHC; methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria; C2orf25, chromosome 2 open reading frame 25; methylmalonic aciduria and homocystinuria type D protein, mitochondrial; cblD; CL25022; protein C2orf25, mitochondrial; C2o; C2orf25; methylmalonic aciduria and homocystinuria type D homolog, mitochondrial; My011; zgc:91819

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