ZMPSTE24
Chr 1ARzinc metallopeptidase STE24
Also known as: FACE-1, FACE1, HGPS, PRO1, RSDM1, STE24, Ste24p
The protein is a zinc metalloproteinase that processes prelamin A to form mature lamin A on the inner nuclear membrane and clears clogged translocons on the endoplasmic reticulum. Mutations cause mandibuloacral dysplasia with type B lipodystrophy and restrictive dermopathy, both inherited in an autosomal recessive pattern. The gene shows extremely low constraint to loss-of-function variation (pLI near zero), consistent with the recessive inheritance pattern where heterozygous carriers are typically unaffected.
Definitive — sufficient evidence for diagnostic panels
2 total gene-disease associations curated
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ZMPSTE24 · 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
External Resources
Links to major genomics databases and tools