CPLANE1 wt Allele

**Semantic type:** Gene or Genome

**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.

**Synonyms:** - C5orf42 - Chromosome 5 Open Reading Frame 42 Gene - Ciliogenesis and Planar Polarity Effector Complex Subunit 1 wt Allele - FLJ13231 - Heart Under Glass Gene - Hug - JBTS17 - OFD6