Recombinant Human Usher Syndrome 1C

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.

Escherichia Coli.

USH1C protein solution (1mg/ml) containing 20mM Tris-HCl buffer (pH 8.0) and 20% glycerol.

ProSpec's products are furnished for LABORATORY RESEARCH USE ONLY. The product may not be used as drugs, agricultural or pesticidal products, food additives or household chemicals.

Store at 4C if entire vial will be used within 2-4 weeks. Store, frozen at -20C 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.