Protein Name USH1 protein network component harmonin
Organism Homo sapiens
Gene ID 10083
Gene Symbol

USH1C

UniProt Q9Y6N9 (USH1C_HUMAN), A0A0S2Z4V1 (A0A0S2Z4V1_HUMAN), A0A0S2Z4U9 (A0A0S2Z4U9_HUMAN)
Relationships Total Number of functionally related compound(s) : 8
Total Number of Articles : 12
Description

USH1 protein network component harmonin

Gene Summary

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, Mar 2009]

synonyms
  • harmonin
  • Usher syndrome 1C (autosomal recessive, severe)
  • antigen NY-CO-38/NY-CO-37
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Properties