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]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| USH1C-20-RE | 20 (40 μL) | 200 μL |  |
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| USH1C-20-OR | 20 (40 μL) | 200 μL |  |
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| USH1C-20-GO | 20 (40 μL) | 200 μL |  |
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| USH1C-20-GR | 20 (40 μL) | 200 μL |  |
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| USH1C-20-AQ | 20 (40 μL) | 200 μL |  |
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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]
Gene Symbol : USH1C
Gene Name : USH1 protein network component harmonin
Chromosome : CHR 11: 175,444,15-174,938,94
Locus : 11p15.1
Alt. Genes : FEM1B
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