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gene: MMUT

id4594
symbolMMUT
organismHomo sapiens
full namemethylmalonyl-CoA mutase
summaryThis gene encodes the mitochondrial enzyme methylmalonyl Coenzyme A mutase. In humans, the product of this gene is a vitamin B12-dependent enzyme which catalyzes the isomerization of methylmalonyl-CoA to succinyl-CoA, while in other species this enzyme may have different functions. Mutations in this gene may lead to various types of methylmalonic aciduria. [provided by RefSeq, Jul 2008]
variant-disease

NM_000255.4(MMUT):c.52C>T (p.Gln18Ter) AND METHYLMALONIC ACIDURIA, mut(0) TYPE

NM_000255.4(MMUT):c.1867G>A (p.Gly623Arg) AND METHYLMALONIC ACIDURIA, mut(0) TYPE

MUT, IVS11, C-A, -891 AND METHYLMALONIC ACIDURIA, mut(0) TYPE

NM_000255.4(MMUT):c.1495G>A (p.Ala499Thr) AND Methylmalonic acidemia

NM_000255.4(MMUT):c.*278A>G AND Methylmalonic acidemia

... 421 more


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