gene 2,382 words KG: USH1C 2026-03-27
kind:genesection:genesstate:publishedtopic:usher-syndrometopic:hearing-losstopic:retinitis-pigmentosa
Contents

USH1C Gene

🧬 Gene Info
Gene SymbolUSH1C
Full NameUsher Syndrome 1C Protein (Harmonin)
Chromosome11p15.4
FunctionThe stereocilia are actin-filled protrusions that detect sound vibrations and head movements.
Primary Expressionthe inner ear - Isoform B: Shorter isoform missing some PDZ domains, expressed in retina and brain - Isoform C: Alternatively spliced variant
Molecular Weight~72 kDa
Amino Acids899 aa
Exons14
UniProt IDQ9Y286
NCBI Gene ID10083
Ensembl IDENSG00000106638
OMIM605242
GeneCardsUSH1C
Human Protein AtlasUSH1C
Protein Length899 amino acids
Associated DiseasesUsher Syndrome Type 1C
KG Connections5 knowledge graph edges
DatabasesGeneCardsHPASTRING

Knowledge Graph