The tctn1 gene encodes a transmembrane protein localized to the transition zone of cilia and the basal body. It plays a role in regulating ciliogenesis, sonic hedgehog signaling transduction, and neura...[+]

The tctn1 gene encodes a transmembrane protein localized to the transition zone of cilia and the basal body. It plays a role in regulating ciliogenesis, sonic hedgehog signaling transduction, and neural tube patterning. Expression is observed in the neural tube, notochord, cement gland, and other ciliated tissues during development. [-]

             Joubert syndrome 13

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