OC90
Chr 8otoconin 90
Also known as: PLA2L
The protein is a major component of otoconia (calcium carbonate structures in the inner ear) that acts as a scaffold for biomineralization by sequestering calcium and forming interconnecting fibrils between otoconia crystals. Mutations cause autosomal recessive benign recurrent vertigo, characterized by episodes of vertigo due to defective otoconia formation in the vestibular system. The gene shows minimal constraint against loss-of-function variants, consistent with its role in a non-life-threatening vestibular condition.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
OC90 · 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