Aliases for MMAB Gene
- Methylmalonic Aciduria (Cobalamin Deficiency) CblB Type 2 3 5
- Cilia And Flagella Associated Protein 23 2 3
- Methylmalonic Aciduria Type B Protein 3 4
- ATP:Cob(I)Alamin Adenosyltransferase 2 3
- Cob(I)Yrinic Acid A,C-Diamide Adenosyltransferase, Mitochondrial 3
- Methylmalonic Aciduria (Cobalamin Deficiency) Type B 2
- Aquocob(I)Alamin Vitamin B12s Adenosyltransferase 3
- ATP:Corrinoid Adenosyltransferase 3
External Ids for MMAB Gene
Previous GeneCards Identifiers for MMAB Gene
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]
GeneCards Summary for MMAB Gene
MMAB (Methylmalonic Aciduria (Cobalamin Deficiency) CblB Type) is a Protein Coding gene. Diseases associated with MMAB include Methylmalonic Aciduria, Cblb Type and Isolated Methylmalonic Acidemia. Among its related pathways are Metabolism and Metabolism of water-soluble vitamins and cofactors. Gene Ontology (GO) annotations related to this gene include cob(I)yrinic acid a,c-diamide adenosyltransferase activity.
UniProtKB/Swiss-Prot for MMAB Gene
Adenosyltransferase involved in intracellular vitamin B12 metabolism. Generates adenosylcobalamin (AdoCbl) and directly delivers the cofactor to MUT in a transfer taht is stimulated by ATP-binding to MMAB and gated by MMAA.