INTU
Chr 4ARinturned planar cell polarity protein
Also known as: CPLANE4, INT, OFD17, PDZD6, PDZK6, SRTD20
The INTU protein regulates cilia formation by controlling basal body positioning and apical actin cytoskeleton organization, functioning as a core component of the CPLANE complex essential for normal ciliogenesis. Biallelic mutations cause orofaciodigital syndrome XVII and short-rib thoracic dysplasia with polydactyly, both congenital ciliopathies affecting craniofacial structures, digits, and the thoracic cage with autosomal recessive inheritance. This gene shows extremely low tolerance to loss-of-function variants (pLI near 1), indicating strong evolutionary constraint.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
INTU · 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