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The protein encoded by MMAA is involved in the translocation of cobalamin into the mitochondrion, where it is used in the final steps of adenosylcobalamin synthesis.
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Ten novel mutational MMAA variants have been identified in patients with methylmalonic aciduria.
MMAA acts as a chaperone of human MCM protein.
Structures of the human GTPase (show RACGAP1 Antibodies) MMAA and vitamin B12 (show NDUFB3 Antibodies)-dependent methylmalonyl-CoA mutase (show MUT Antibodies) and insight into their complex formation.
A candidate gene for mutations (deletion, insertion, stop-codon, missense)in cblA patient cells was identified as MMAA on chromosome 4q31.1-2. It encodes a predicted protein of 418 AA.
DNA from 37 cblA patients was analyzed for deleterious mutations in the MMAA gene by DNA sequencing of exons and flanking sequences
Long-term outcome in methylmalonic acidurias is influenced by the underlying genetic defects in MCM/MMAA/MMAB (show MMAB Antibodies).
Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group.
Spondylocostal dysostosis associated with MMAA is presented in a young boy.
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.
methylmalonic aciduria type A protein, mitochondrial
, methylmalonic aciduria type A homolog, mitochondrial