Probable effector of the planar cell polarity signaling pathway which regulates the septin cytoskeleton in both ciliogenesis and collective cell movements including covergent extension during gastrulat...[+]

Probable effector of the planar cell polarity signaling pathway which regulates the septin cytoskeleton in both ciliogenesis and collective cell movements including covergent extension during gastrulation. Controls cell shape but not polarization during convergent extension (PubMed:20671153). Proposed to function as core component of the CPLANE (ciliogenesis and planar polarity effectors) complex involved in the recruitment of peripheral IFT-A proteins to basal bodies. [-]

             Bardet-Biedl syndrome
             congenital heart defects, hamartomas of tongue, and polysyndactyly

          BARDET-BIEDL SYNDROME 15; BBS15
          CONGENITAL HEART DEFECTS, HAMARTOMAS OF TONGUE, AND POLYSYNDACTYLY; CHDTHP

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD