rs1553957915

This variant is located in the MMAA gene.

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ClinVar annotation

Uncertain Significance★☆☆☆
1 submitter1 publication

Methylmalonic aciduria, cblA type

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About MMAA

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. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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