The gene pdzk1ip1 encodes a scaffold protein involved in ciliogenesis and left-right patterning. The protein localizes to the cilium and basal body, functioning within motile cilia of the gastrocoel ro...[+]

The gene pdzk1ip1 encodes a scaffold protein involved in ciliogenesis and left-right patterning. The protein localizes to the cilium and basal body, functioning within motile cilia of the gastrocoel roof plate and the pronephros. It is required for proper ciliary function during embryonic development, influencing fluid flow that establishes normal organ situs. Expression is also detected in the gut and otic vesicle. [-]

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