NCIt synonyms : Chromosome 5 Open Reading Frame 42 Gene; C5orf42; Ciliogenesis and Planar Polarity Effector Complex Subunit 1 wt Allele; Hug; Heart Under Glass Gene; JBTS17; OFD6; FLJ13231;
NCIt definition : Human CPLANE1 wild-type allele is located in the vicinity of 5p13.2 and is approximately
174 kb in length. This allele, which encodes ciliogenesis and planar polarity effector
1 protein, plays a role in ciliogenesis and cell migration. Mutation of the gene is
associated with Joubert syndrome 17 and orofaciodigital syndrome 6.;
OMIM relation