Name: Recombinant Human Usher Syndrome 1C
Price: Inquiry

- Overview
  - USH1C Human Recombinant fused with a 37 amino acid His tag at N-terminus produced in E. Coli is a single, non-glycosylated, polypeptide chain containing 570 amino acids (1-533 a.a.) and having a molecular mass of 64.6kDa. The USH1C is purified by proprietary chromatographic techniques. USH1C gene product Harmonin, is a scaffold protein which functions in the assembly of Usher protein complexes. Harmonin is able to attach to various proteins in cell membranes and coordinate their activities. Harmonin contains PDZ domains, a coiled-coil region with a bipartite nuclear localization signal and a PEST degradation sequence. USH1C is expressed in the small intestine, colon, kidney, eye, vestibule of the inner ear and weakly in the pancreas. Mutations in the USH1C gene cause the Usher syndrome type I which is an autosomal recessive sensory defect involving congenital profound sensorineural deafness, vestibular dysfunction, and blindness due to progressive retinitis pigmentosa. Sensorineural deafness is caused by damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. The 3 types of the Usher syndrome (1-3) are distinguished by age at onset and differences in auditory and vestibular function. USH1C gene defects cause of non-syndromic sensorineural deafness autosomal recessive type 18 (DFNB18), is a form of sensorineural hearing loss.
    
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- Properties
  - Protein Name
    
    Harmonin, Usher syndrome type-1C protein, Autoimmune enteropathy-related antigen AIE-75, Antigen NY-CO-38/NY-CO-37, PDZ-73 protein, Renal carcinoma antigen NY-REN-3, USH1C, AIE75, PDZ73, AIE-75, DFNB18, PDZ-45, NY-CO-37, NY-CO-38, ush1cpst, PDZ-73/NY
    
    Source
    
    E. coli
    
    Type
    
    Recombinant Proteins
    
    Purification
    
    Greater than 95.0% as determined by SDS-PAGE.
    
    Formulation
    
    USH1C protein solution (1mg/ml) containing 20mM Tris-HCl buffer (pH 8.0) and 20% glycerol.
    
    Storage
    
    Store at 4°C if entire vial will be used within 2-4 weeks. Store, frozen at -20°C for longer periods of time. For long term storage it is recommended to add a carrier protein (0.1% HSA or BSA). Avoid multiple freeze-thaw cycles.
    
    * For Research Use Only. Not for use in diagnostic/therapeutics procedures.

Recombinant Human Usher Syndrome 1C

Recombinant Human Usher Syndrome 1C

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