PPM1K

Chr 4AR

protein phosphatase, Mg2+/Mn2+ dependent 1K

Also known as: BCKDH, BDP, MSUDMV, PP2Ckappa, PP2Cm, PTMP, UG0882E07

NCBI Gene: 152926ENSG00000163644UniProt: Q8N3J5OMIM: 611065

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]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Maple syrup urine disease, mild variantMIM #615135
AR

Clinical highlights

Gene-disease validity (ClinGen)
maple syrup urine disease, mild variant · ARModerateconsider for supplementary testing
Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.
0
Active trials
18
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.06
LOEUF
LOF
Mechanism· G2P

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.06LOEUF
pLI 0.000
Z-score 1.40
OE 0.59 (0.34–1.06)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
1.29Z-score
OE missense 0.75 (0.66–0.86)
160 obs / 212.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.59 (0.34–1.06)
0≤0.351.4
Missense OE?0.75 (0.66–0.86)
0≤0.61.4
Synonymous OE?0.91
0≤1.21.6
LoF obs/exp: 8 / 13.6Missense obs/exp: 160 / 212.8Syn Z: 0.65

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PPM1K · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients