USH1C

This gene encodes a scaffold protein that functions in the assembly of Usher protein complexes. The protein contains PDZ domains, a coiled-coil region with a bipartite nuclear localization signal and a PEST degradation sequence. Defects in this gene are the cause of Usher syndrome type 1C and non-syndromic sensorineural deafness autosomal recessive type 18. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq]

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 (PubMed:24725409, PubMed:26812018).

Biological Process actin filament bundle assembly Source:BHF-UCL
Biological Process brush border assembly Source:UniProtKB1 Publication
Biological Process equilibrioception Source:HGNC-UCL1 Publication
Biological Process G2/M transition of mitotic cell cycle Source:HGNC-UCL1 Publication
Biological Process inner ear auditory receptor cell differentiation Source:BHF-UCL
Biological Process inner ear morphogenesis Source:BHF-UCL
Biological Process inner ear receptor cell stereocilium organization Source:BHF-UCL
Biological Process parallel actin filament bundle assembly Source:BHF-UCL
Biological Process photoreceptor cell maintenance Source:HGNC-UCL1 Publication
Biological Process protein localization to microvillus Source:UniProtKB2 Publications
Biological Process protein-containing complex assembly Source:UniProtKB1 Publication
Biological Process regulation of microvillus length Source:UniProtKB
Biological Process retinal cone cell development Source:GO_Central1 Publication
Biological Process sensory perception of light stimulus Source:HGNC-UCL1 Publication
Biological Process sensory perception of sound Source:HGNC-UCL1 Publication

Cytoplasm, cytosol
Cytoplasm, cytoskeleton
Cell projection, microvillus
Colocalizes with F-actin (By similarity).
Detected at the tip of cochlear hair cell stereocilia (By similarity).
Enriched in microvilli of the intestinal brush border (PubMed:24725409).

Usher syndrome 1C (USH1C):
USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness.
Deafness, autosomal recessive, 18A (DFNB18A):
A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.