"USH1C" Related Products

Recombinant Human USH1C cell lysate

Cat.No.: USH1C-1892HCL
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;

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