RPGRIP1L
Chr 16ARRPGRIP1 like
Also known as: COACH3, CORS3, FTM, JBTS7, MKS5, NPHP8, PPP1R134
The protein localizes to basal bodies, centrosomes, and primary cilia where it regulates signaling pathways and is involved in establishing planar cell polarity and organizing apical junctions. Mutations cause Joubert syndrome 7, Meckel syndrome 5, and COACH syndrome 3, which are ciliopathies affecting the central nervous system, kidneys, liver, and other organ systems with onset typically in the neonatal period. The gene follows autosomal recessive inheritance.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Tolerant to missense variation
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
RPGRIP1L · 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