DISEASES

Disease-gene associations mined from literature

Literature associating C1orf192 and hereditary desmoid disease

C1orf192 [ENSP00000356951]

Cilia- and flagella-associated protein 126; Acts as a regulator of cilium basal body docking and positioning in mono- and multiciliated cells. Regulates basal body docking and cilia formation in multiciliated lung cells. Regulates kinocilium positioning and stereocilia bundle morphogenesis in the inner ear.

Synonyms:  C1orf192,  C1ORF192,  CFAP126,  Q5VTH2,  CFAP126p ...

Linkouts:  STRING  Pharos  UniProt