Usher Syndrome 1C Human Recombinant ( USH1C Human )

Usher Syndrome 1C Human Recombinant ( USH1C Human )
$175.00

DescriptionUSH1C Human Recombinant fused with 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
Formulation
USH1C protein solution (1mg/ml) containing 20mM Tris-HCl buffer (pH 8.0) and 20% glycerol.
Purity
Greater than 95.0% as determined by SDS-PAGE.
Inactivation
Protein quantitation was carried out by two independent methods:1. UV spectroscopy at 280 nm using the absorbency value of 1.42 as the extinction coefficient for a 0.1% (1mg/ml) solution. This value is calculated by the PC GENE computer analysis program of protein sequences (IntelliGenetics). 2. Analysis by RP-HPLC, using a standard of Flt3-Ligand as a Reference Standard.
Description
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.
Protein Background
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.
Expression host
Escherichia Coli.
Synonyms
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-CO-38.
Reagent Appearance
Sterile Filtered colorless solution.
Stability
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.
Amino acid sequence
MRGSHHHHHH GMASMTGGQQ MGRDLYDDDD KDRWGSHMDR KVAREFRHKV DFLIENDAEK DYLYDVLRMY HQTMDVAVLV GDLKLVINEP SRLPLFDAIR PLIPLKHQVE YDQLTPRRSR KLKEVRLDRL HPEGLGLSVR GGLEFGCGLF ISHLIKGGQA DSVGLQVGDE IVRINGYSIS SCTHEEVINL IRTKKTVSIK VRHIGLIPVK SSPDEPLTWQ YVDQFVSESG GVRGSLGSPG NRENKEKKVF ISLVGSRGLG CSISSGPIQK PGIFISHVKP GSLSAEVGLE IGDQIVEVNG VDFSNLDHKE GRELFMTDRE RLAEARQREL QRQELLMQKR LAMESNKILQ EQQEMERQRR KEIAQKAAEE NERYRKEMEQ IVEEEEKFKK QWEEDWGSKE QLLLPKTITA EVHPVPLRKP KYDQGVEPEL EPADDLDGGT EEQGEQDFRK YEEGFDPYSM FTPEQIMGKD VRLLRIKKEG SLDLALEGGV DSPIGKVVVS AVYERGAAER HGGIVKGDEI MAINGKIVTD YTLAEADAAL QKAWNQGGDW IDLVVAVCPP KEYDDELTFF.

 

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