USH1C USH1 protein network component harmonin

Gene ID: 10083, updated on 2-Nov-2024
Gene type: protein coding
Also known as: PDZ73; AIE-75; DFNB18; PDZ-45; PDZ-73; PDZD7C; DFNB18A; NY-CO-37; NY-CO-38; ush1cpst; PDZ-73/NY-CO-38

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]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Autosomal recessive nonsyndromic hearing loss 18A MedGen: C1865870OMIM: 602092GeneReviews: Genetic Hearing Loss Overview	See labs
Usher syndrome type 1 MedGen: C1568247OMIM: 276900GeneReviews: Usher Syndrome Type I	See labs
Usher syndrome type 1C MedGen: C1848604OMIM: 276904GeneReviews: Usher Syndrome Type I	See labs

Genomic context

Location:: 11p15.1

Sequence:: Chromosome: 11; NC_000011.10 (17493900..17544416, complement)

Total number of exons:: 28

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for USH1C variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

CCHMC - Human Genetics Mutation Database
ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
USH1C @ USHbases
Variation Viewer
Related Variants

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