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gene: MMAA

id166785
symbolMMAA
organismHomo sapiens
full namemetabolism of cobalamin associated A
summaryThe 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. [provided by RefSeq, Jul 2008]
variant-disease

NM_172250.3(MMAA):c.283C>T (p.Gln95Ter) AND Methylmalonic aciduria cblA type

NM_172250.3(MMAA):c.370C>T (p.Gln124Ter) AND Methylmalonic aciduria cblB type

NM_172250.3(MMAA):c.562+1G>A AND Methylmalonic aciduria cblA type

NM_172250.3(MMAA):c.387C>A (p.Tyr129Ter) AND not provided

NM_172250.3(MMAA):c.397C>T (p.Gln133Ter) AND Methylmalonic aciduria cblA type

... 206 more


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