rs104893846

This is a stop gained variant in the MMAA gene.

▶

ClinVar annotation

Pathogenic★★★☆
7 submitters8 publications

Methylmalonic acidemia (MMA); Methylmalonic aciduria, cblA type (MACA)

View on ClinVar →

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]

View all MMAA variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…