CPLANE1

Chr 5AR

ciliogenesis and planar polarity effector complex subunit 1

ENSG00000197603 UniProt: Q9H799 OMIM: 614571

This protein is involved in ciliogenesis and establishment of cell polarity required for directional cell migration, functioning as part of the CPLANE complex to recruit peripheral IFT-A proteins to basal bodies. Mutations cause Joubert syndrome 17 and orofaciodigital syndrome VI, both ciliopathies affecting the central nervous system and multiple organ systems. The inheritance pattern is autosomal recessive.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

Involved in ciliogenesis (PubMed:25877302, PubMed:35582950). Involved in the establishment of cell polarity required for directional cell migration. Proposed to act in association with the CPLANE (ciliogenesis and planar polarity effectors) complex. Involved in recruitment of peripheral IFT-A proteins to basal bodies (By similarity)

OMIM ResearchGenerating clinical summary…

LOFmechanismARLOEUF 0.672 OMIM phenotypes

Clinical Summary— CPLANE1

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Gene-Disease Validity (ClinGen)

Joubert syndrome 17 · ARDefinitive

Definitive — sufficient evidence for diagnostic panels

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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