| Product Name | Harmonin, 1-533aa, Human, Recombinant |
|---|---|
| Description | Harmonin, product encoded by USH1c gene, is a scaffold protein that functions in the assembly of Usher protein complexes. Usher syndrome type I caused by mutations in USH1C is an autosomal recessive sensory defect involving congenital profound sensorineural deafness, vestibular dysfunction, and blindness due to progressive retinitis pigmentosa. Hormonin has the ability to bind to many other proteins in cell membranes and coordinates their activities. Recombinant human Harmonin protein, fused to His-tag at N-terminus, was expressed in E.coli and purified by using conventional chromatography. |
| Synonyms | Harmonin, USH1C, AIE-75, DFNB18, NY-CO-37, NY-CO-38, PDZ-45, PDZ-73, PDZ-73/NY-CO-38, AIE 75, AIE75, Antigen NY CO 38/NY CO 37, Autoimmune enteropathy related antigen AIE 75, Autoimmune enteropathy related antigen AIE75, Deafness autosomal recessive 18, DFNB 18, NY CO 37, NY CO 38, PDZ 45, PDZ 73, PDZ 73 protein, PDZ 73/NY CO 38, PDZ45, PDZ73, PDZ73 protein, Renal carcinoma antigen NY REN 3, USH 1C, Ush1cpst, Usher syndrome 1C, Usher syndrome type 1C protein, Usher syndrome 1C (autosomal recessive severe). |
| Host | E. coli |
| Molecular Weight | 44.2 kDa (395aa), confirmed by MALDI-TOF. |
| 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 |
| Reactivity | Human |
| Applications | SDS-PAGE |
| Form | Liquid, in 20 mM Tris-HCl buffer (pH 8.0) containing 1mM DTT, 10% glycerol. |
| Concentration | 1 mg/ml (determined by Bradford assay) |
| Purity | > 95% by SDS-PAGE |
| Storage | Can be stored at +4C short term (1-2 weeks). For long term storage, aliquot and store at -2°C or -7°C. Avoid repeated freezing and thawing cycles. |
| References | Siemens J., et al. (2002). Proc Natl Acad Sci U S A. 99(23):14946-51. Ouyang XM., et al. (2002). Hum Genet. 111(1):26-30. |
| Background | Harmonin, product encoded by USH1c gene, is a scaffold protein that functions in the assembly of Usher protein complexes. Usher syndrome type I caused by mutations in USH1C is an autosomal recessive sensory defect involving congenital profound sensorineural deafness, vestibular dysfunction, and blindness due to progressive retinitis pigmentosa. Hormonin has the ability to bind to many other proteins in cell membranes and coordinates their activities. Recombinant human Harmonin protein, fused to His-tag at N-terminus, was expressed in E.coli and purified by using conventional chromatography. |
| Supplier | ARP |
All Research Products are sold for laboratory RESEARCH USE ONLY and ARE NOT TO BE USED FOR HUMAN OR ANIMAL THERAPEUTIC OR DIAGNOSTIC APPLICATIONS. The information presented is believed to be accurate; however, said information and products are offered without warranty or guarantee since the ultimate conditions of use and the variability of the materials treated are beyond our control. Nothing disclosed herein is to be construed as a recommendation to use our products in violation of any patents. ARP American Research Products, Inc. does not submit its products for regulatory review by any government body or other organization, and we do not validate them for clinical, therapeutic or diagnostic use, or for safety and effectiveness. You are solely responsible for making sure that the way you use the products complies with applicable laws, regulations and governmental policies and for obtaining all necessary approvals, intellectual property rights, licenses and permissions that you may need related to your use. Under no circumstances shall ARP American Research Products, Inc. be liable for damages, whether consequential, compensatory, incidental or special, strict liability or negligence, breach of warranty or any other theory arising out of the use of the products available from ARP American Research Products, Inc. Nothing contained herein warrants that the use of the products will not infringe on the claims of any patents covering the product itself or the use thereof in combination with other products or in the operation of any process. ARP American Research Products, Inc. disclaims any and all representations or warranties of any kind whatsoever, express or implied, including without limitation any implied warranties of merchantability or fitness for a particular purpose, of non-infringement, or regarding results obtained through the use of any product, whether arising from a statute or otherwise in law or from a course of performance, dealing or usage of trade.
