The ift172 gene encodes a core component of the intraflagellar transport complex b, which is necessary for anterograde ciliary transport and cilium assembly. The protein localizes to the cytoplasm and ...[+]

The ift172 gene encodes a core component of the intraflagellar transport complex b, which is necessary for anterograde ciliary transport and cilium assembly. The protein localizes to the cytoplasm and to motile cilia, including those in the pronephros. Mutations disrupting this gene result in defective ciliogenesis, shortened cilia, and cystic kidney phenotypes. It functions within the photoreceptor connecting cilium and is required for proper retinal development. Expression is observed in the neural tube, somites, pronephric duct, and other ciliated tissues during embryonic stages. [-]

             short-rib thoracic dysplasia 10 with or without polydactyly
             retinitis pigmentosa 71
             retinitis pigmentosa
             Bardet-Biedl syndrome

          RETINITIS PIGMENTOSA 71; RP71

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