PPM1K Chromosome 4
Protein phosphatase, Mg2+/Mn2+ dependent 1K
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What This Gene Does
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]
Gene Info
Gene Group
"Protein phosphatases, Mg2+/Mn2+ dependent|Branched chain alpha-keto acid dehydrogenase complex subunits"
Locus Type
gene with protein product
Location
4q22.1
Ensembl
ENSG00000163644
Associated Conditions (2)
Maple syrup urine disease
mild variant
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS555916014 | Health Risk | Conflicting classifications of pathogenicity | Maple syrup urine disease, mild variant, Maple syrup urine disease |
| RS2476675975 | Health Risk | Pathogenic | Maple syrup urine disease, mild variant, Maple syrup urine disease |