rs1321080096

This variant is located in the PPM1K gene.

▶

ClinVar annotation

Uncertain Significance★☆☆☆
1 submitter1 publication

Maple syrup urine disease, mild variant

View on ClinVar →

About PPM1K

This gene encodes a member of the PPM family of Mn2+/Mg2+-dependent protein phosphatases. The encoded protein, essential for cell survival and development, is targeted to the mitochondria where it plays a key role in regulation of the mitochondrial permeability transition pore. [provided by RefSeq, Sep 2012]

View all PPM1K 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…