The hydin protein is an axonemal central pair protein localized to the ciliary axoneme and is required for motile cilia function. It is involved in the regulation of ciliary beating and left-right asym...[+]

The hydin protein is an axonemal central pair protein localized to the ciliary axoneme and is required for motile cilia function. It is involved in the regulation of ciliary beating and left-right asymmetry establishment during embryogenesis. Mutations or deficiencies in this protein result in ciliopathies characterized by hydrocephalus and defective fluid flow, with expression observed in tissues containing motile cilia such as the brain ependyma and the embryonic gastrocoel roof plate. [-]

             primary ciliary dyskinesia 5

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