| Symbol: Name: ID: |
USH1C Usher syndrome 1C (autosomal recessive, severe) GFS:2379 |
| Gene name: | USH1C |
| Chromosome: | 11p14.3 |
| Previous Symbols: | DFNB18 |
| Previous Names: | deafness, autosomal recessive 18 |
| Aliases: | PDZ73, harmonin, NY-CO-37, NY-CO-38, PDZ-73, AIE-75 |
| Name Aliases: | |
| Locus Type: | gene with protein product |
| Mouse Genome Database ID: | MGI:1919338 | Rat Genome Database ID: | RGD:1303329 |
| HGNC ID: | HGNC:12597 | RefSeq IDs: | NM_005709 |
| Entrez Gene ID: | 10083 | Ensembl Gene ID: | ENSG00000006611 |
| VEGA IDs: | UniProt ID: | Q9Y6N9 | |
| UCSC ID: | uc001mne.2 | OMIM ID: | 605242 |
| Pubmed: | PMID10973247 PMID 12107438 | ||
| CCDS IDs: | CCDSCCDS7825.1 CCDS CCDS31438.1 | ||
Harmonin is a protein that in humans is encoded by the USH1C gene.
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].
Function: May be involved in protein-protein interaction.
Products for USH1C gene
| Catalog | Product Name | Application | Company |
| GFS:E02379 | Usher syndrome 1C (autosomal recessive, severe); ELISA kit | ELISA | n/a |
| GFS:A02379 | Usher syndrome 1C (autosomal recessive, severe); Anti | ANTIBODIES | n/a |
| GFS:P02379 | Usher syndrome 1C (autosomal recessive, severe); Protien | Protien | n/a |
