Recombinant Human USH1C cell lysate
- Specification
- Gene Information
- Related Products
| Description : |
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. |
| Species : |
Human |
| Size : |
100 ul |
| Storage Buffer : |
1X Sample Buffer (50 mM Tris-HCl, 2% SDS, 10% glycerol, 300 mM 2-mercaptoethanol, 0.01% Bromophenol blue) |
| Applications : |
Western Blot; |
| Gene Name : |
USH1C Usher syndrome 1C (autosomal recessive, severe) [ Homo sapiens ] |
| Official Symbol : |
USH1C |
| Synonyms : |
USH1C; Usher syndrome 1C (autosomal recessive, severe); deafness, autosomal recessive 18 , DFNB18; harmonin; AIE 75; NY CO 37; NY CO 38; PDZ 73; PDZ73; antigen NY-CO-38/NY-CO-37; usher syndrome type-1C protein; renal carcinoma antigen NY-REN-3; autoimmune enteropathy-related antigen AIE-75; AIE-75; DFNB18; PDZ-45; PDZ-73; NY-CO-37; NY-CO-38; ush1cpst; PDZ-73/NY-CO-38; |
| Gene ID : |
10083 |
| mRNA Refseq : |
NM_005709 |
| Protein Refseq : |
NP_005700 |
| MIM : |
605242 |
| UniProt ID : |
Q9Y6N9 |
| Chromosome Location : |
11p14.3 |
| Function : |
protein binding; |
For Research Use Only. Not intended for any clinical use. No products from Creative BioMart may be resold, modified for resale or used to manufacture commercial products without prior written approval from Creative BioMart.
