MMAB 抗体
(Methylmalonic Aciduria (Cobalamin Deficiency) CblB Type (MMAB))
This gene encodes a protein that catalyzes the final step in the conversion of vitamin B(12) into adenosylcobalamin (AdoCbl), a vitamin B12-containing coenzyme for methylmalonyl-CoA mutase. Mutations in the gene are the cause of vitamin B12-dependent methylmalonic aciduria linked to the cblB complementation group. Alternatively spliced transcript variants have been found. [provided by RefSeq, Apr 2011].
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Latest Publications for our MMAB 抗体
: "Initial characterization of the human central proteome." in: BMC systems biology, Vol. 5, pp. 17, (2011) (PubMed).
: "Genetic analysis of three genes causing isolated methylmalonic acidemia: identification of 21 novel allelic variants." in: Molecular genetics and metabolism, Vol. 84, Issue 4, pp. 317-25, (2005) (PubMed).
: "Identification of the human and bovine ATP:Cob(I)alamin adenosyltransferase cDNAs based on complementation of a bacterial mutant." in: The Journal of biological chemistry, Vol. 278, Issue 11, pp. 9227-34, (2003) (PubMed).
: "Identification of the gene responsible for the cblB complementation group of vitamin B12-dependent methylmalonic aciduria." in: Human molecular genetics, Vol. 11, Issue 26, pp. 3361-9, (2002) (PubMed).
: "Genetic analysis of three genes causing isolated methylmalonic acidemia: identification of 21 novel allelic variants." in: Molecular genetics and metabolism, Vol. 84, Issue 4, pp. 317-25, (2005) (PubMed).
: "Identification of the human and bovine ATP:Cob(I)alamin adenosyltransferase cDNAs based on complementation of a bacterial mutant." in: The Journal of biological chemistry, Vol. 278, Issue 11, pp. 9227-34, (2003) (PubMed).
: "Identification of the gene responsible for the cblB complementation group of vitamin B12-dependent methylmalonic aciduria." in: Human molecular genetics, Vol. 11, Issue 26, pp. 3361-9, (2002) (PubMed).
Aliases for MMAB 抗体
methylmalonic aciduria (cobalamin deficiency) cblB type (MMAB) 抗体methylmalonic aciduria (cobalamin deficiency) cblB type homolog (human) (Mmab) 抗体
9130222L19Rik 抗体
ATR 抗体
cblB 抗体
cob 抗体
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