DISEASES

Disease-gene associations mined from literature

Literature associating WHRN and autosomal recessive nonsyndromic deafness

WHRN [ENSP00000354623]

Whirlin; Involved in hearing and vision as member of the USH2 complex. Necessary for elongation and maintenance of inner and outer hair cell stereocilia in the organ of Corti in the inner ear. Involved in the maintenance of the hair bundle ankle region, which connects stereocilia in cochlear hair cells of the inner ear. In retina photoreceptors, required for the maintenance of periciliary membrane complex that seems to play a role in regulating intracellular protein transport.

Synonyms:  WHRN,  A0A0A0MRR8,  A0A0C4DFN4,  Q9P202,  Q9P202p ...

Linkouts:  STRING  Pharos  UniProt  OMIM