DISEASES

Disease-gene associations mined from literature

Literature associating USH1C and Usher syndrome type 2C

USH1C [ENSP00000005226]

Usher syndrome 1C (autosomal recessive, severe); Anchoring/scaffolding protein that is a part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal development and maintenance of cochlear hair cell bundles (By similarity). As part of the intermicrovillar adhesion complex/IMAC plays a role in brush border differentiation, controlling microvilli organization and length. Probably plays a central regulatory role in the assembly of the complex, recruiting CDHR2, CDHR5 and MYO7B to the microvilli tips; Deafness associated genes

Synonyms:  USH1C,  USH1Cp,  hUSH1C,  E9PNW1,  Q9Y6N9 ...

Linkouts:  STRING  Pharos  UniProt  OMIM