Cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial is an enzyme that in humans is encoded by the MMAB gene .[ 5] [ 6] [ 7]
Clinical significance
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Mutations in the gene are the cause of vitamin B12 -dependent methylmalonic aciduria linked to the cblB complementation group.[ 7]
^ a b c GRCh38: Ensembl release 89: ENSG00000139428 – Ensembl , May 2017^ a b c GRCm38: Ensembl release 89: ENSMUSG00000029575 – Ensembl , May 2017^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ Dobson CM, Wai T, Leclerc D, Kadir H, Narang M, Lerner-Ellis JP, et al. (December 2002). "Identification of the gene responsible for the cblB complementation group of vitamin B12-dependent methylmalonic aciduria" . Human Molecular Genetics . 11 (26): 3361–3369. doi :10.1093/hmg/11.26.3361 PMID 12471062 . ^ Leal NA, Park SD, Kima PE, Bobik TA (March 2003). "Identification of the human and bovine ATP:Cob(I)alamin adenosyltransferase cDNAs based on complementation of a bacterial mutant" . The Journal of Biological Chemistry . 278 (11): 9227–9234. doi :10.1074/jbc.M212739200 PMID 12514191 . ^ a b c "Entrez Gene: MMAB methylmalonic aciduria (cobalamin deficiency) cblB type" .
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