The gene c2cd3 encodes a peripheral membrane protein localized to the distal end of centrioles and is required for centriole elongation and distal appendage assembly. This protein functions in ciliogen...[+]

The gene c2cd3 encodes a peripheral membrane protein localized to the distal end of centrioles and is required for centriole elongation and distal appendage assembly. This protein functions in ciliogenesis, facilitating intraflagellar transport and the formation of primary cilia. Its role is necessary for establishing left-right asymmetry during embryonic development and for proper neural tube closure. Mutations or knock-downs result in shortened cilia, disrupted sonic hedgehog signaling, and phenotypes including craniofacial defects and cystic kidneys. [-]

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