OSBPL9
Chr 1oxysterol binding protein like 9
Also known as: ORP-9, ORP9
The protein functions as a cholesterol transfer protein that regulates Golgi structure and exchanges phosphatidylserine for phosphatidylinositol-4-phosphate between the endoplasmic reticulum and trans-Golgi, which is critical for sphingomyelin synthesis. This gene is highly constrained against loss-of-function variants (pLI = 0.98, LOEUF = 0.31), but no established human disease has been definitively associated with OSBPL9 mutations to date.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
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
OSBPL9 · 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