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.
Function:
nvolved in cobalamin metabolism.
Subcellular Location:
Mitochondrial.
Tissue Specificity:
Widely expressed at high levels.
DISEASE:
Defects in MMADHC are the cause of methylmalonic aciduria and homocystinuria type cblD (MMAHCD) [MIM:277410]. A disorder of cobalamin metabolism characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl). Clinical features include developmental delay, hyotonia, mental retardation, seizures, megaloblastic anemia. Some patients manifest combined methylmalonic aciduria and homocystinuria (referred to as cblD original), some have only isolated homocystinuria (cblD variant 1), and others have only methylmalonic aciduria (cblD variant 2).
SWISS:
Q9H3L0
Gene ID:
27249
Database links:
Entrez Gene: 27249 Human
Entrez Gene: 109129 Mouse
Entrez Gene: 362134 Rat
Omim: 611935 Human
SwissProt: Q9H3L0 Human
SwissProt: Q99LS1 Mouse
SwissProt: Q6AYQ6 Rat
Unigene: 5324 Human
|
|
