methylmalonic aciduria (cobalamin deficiency) cblA type
Amino Acid Labeled
[U- 13C6, 15N4]-L-Arg and [U- 13C6, 15N2]-L-Lys
MMAA Full-Length MS Protein Standard (NP_758454), Labeled with [U- 13C6, 15N4]-L-Arginine and [U- 13C6, 15N2]-L-Lysine, was produced in human 293 cells (HEK293) with fully chemically defined cell culture medium to obtain incorporation efficiency at Creative-Proteomics. The protein encoded by this gene is involved in the translocation of cobalamin into the mitochondrion, where it is used in the final steps of adenosylcobalamin synthesis. Adenosylcobalamin is a coenzyme required for the activity of methylmalonyl-CoA mutase. Defects in this gene are a cause of methylmalonic aciduria.