cblD, Chromosome 2 open reading frame 25, Protein C2orf25, mitochondrial, CL25022, Methylmalonic aciduria cobalamin deficiency cblD type, with homocystinuria, Protein C2orf25, mitochondrial, MMAD_HUMAN.
C2ORF25 is a mitochondrial protein and its function is not fully identified. But, Vitamin B12 (cobalamin) is an essential cofactor in several metabolic pathways. Intracellular conversion of cobalamin to adenosylcobalamin in mitochondria and to methylcobalamin in cytoplasm is necessary for homeostasis of methylmalonic acid and homocysteine. C2ORF25 encodes a protein involved in an early step of cobalamin metabolism.
