MBTPS1
Chr 16ARmembrane bound transcription factor peptidase, site 1
The protein encoded by this gene is a serine protease that cleaves multiple substrates including sterol regulatory element-binding proteins (SREBPs), ATF6, and other proteins involved in cholesterol metabolism, ER stress response, lysosomal enzyme trafficking, and collagen processing. Mutations cause CAOP syndrome and Kondo-Fu type spondyloepiphyseal dysplasia, both inherited in an autosomal recessive pattern. The gene is highly constrained against loss-of-function variants (LOEUF 0.588), and the associated conditions primarily affect skeletal development and growth.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Tolerant to missense variation
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
MBTPS1 · 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