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Conditions of optimal USH1C Protein performance should be determined experimentally by the investigator.
Price/availability/specifications subject to change without notice. Unless otherwise indicated, our catalog and customized products are for research use only and not intended for human or animal diagnostic or therapeutic use.
Phone: 1-617-401-8149
Fax: 1-617-606-5019
Email: message@sydlabs.com
Or leave a message with a formal purchase
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Introduction
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.
BP002099-PRO-706: Recombinant Human Usher Syndrome 1C (USH1C) Protein
Source: E. coli-derived.
Recombinant Human Usher Syndrome 1C (USH1C) Protein fused with 37 amino acid His tag at N-terminus is a single, non-glycosylated, polypeptide chain containing 570 amino acids (1-533 a.a.) and having a molecular mass of 64.6 kDa. Recombinant Human Usher Syndrome 1C (USH1C) Protein is purified by proprietary chromatographic techniques.
Purity: > 95.0% as determined by (a) Analysis by RP-HPLC; (b) Analysis by SDS-PAGE.
Formulation: The USH1C solution contains 20 mM Tris-HCl buffer (pH 8.0) and 20% glycerol.
Shipping: The product is shipped with ice pack. Upon receipt, store it immediately at the temperature recommended below.
Stability & Storage: Use a manual defrost freezer and avoid repeated freeze-thaw cycles.
12 months from date of receipt, -20 to -70°C as supplied.
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