Gene: C2CD3

Alternate names for this Gene: OFD14

Gene Summary: This gene encodes a protein that functions as a regulator of centriole elongation. Studies of the orthologous mouse protein show that it promotes centriolar distal appendage assembly and is also required for the recruitment of other ciliogenic proteins, including intraflagellar transport proteins. Mutations in this gene cause orofaciodigital syndrome XIV (OFD14), a ciliopathy resulting in malformations of the oral cavity, face and digits. Alternative splicing of this gene results in multiple transcript variants.

Gene is located in Chromosome: 11

Location in Chromosome : 11q13.4

Description of this Gene: C2 domain containing 3 centriole elongation regulator

Type of Gene: protein-coding

rs150291837 in C2CD3 gene and Familial aplasia of the vermis PMID 26092869 2015 Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.

rs587777654 in C2CD3 gene and OROFACIODIGITAL SYNDROME XIV PMID 24997988 2014 The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation.