PPP1R12A
Chr 12ADprotein phosphatase 1 regulatory subunit 12A
Also known as: GUBS, M130, MBS, MYPT1
Myosin phosphatase target subunit 1 is a key regulator of protein phosphatase 1C that mediates binding to myosin and regulates actin-myosin interactions in smooth muscle contraction and nonmuscle cells. Mutations cause genitourinary and/or brain malformation syndrome with autosomal dominant inheritance. This gene is extremely constrained against loss-of-function variants (pLI >0.99, LOEUF 0.13), indicating that such mutations are likely to have severe effects.
Strong evidence — appropriate for clinical testing
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Among the most LoF-intolerant genes (~top 3%)
Moderately missense-constrained (top ~2.5%)
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
PPP1R12A · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools