USH1C

USH1C

Notation for gene for Usher type 1C syndrome.

Usher syndrome, type 1C

A heterogeneous condition (OMIM:276904) characterised by profound congenital sensorineural deafness, absent vestibular function, and prepubertal onset of progressive retinitis pigmentosa leading to blindness.
Molecular pathology
Caused by defects of USH1C, which encodes a scaffold protein that plays a role in assembling Usher protein complexes and is required for normal hearing.