Recombinant Human USH1C cell lysate

• Cat.No.: USH1C-1892HCL

Specification

• Species: Human
• Tag: Non
• 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.
• 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 Information

• 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