Recombinant Human Usher Syndrome 1C, His-tagged

• Cat.No.: USH1C-475H
• Product Overview: Recombinant human Harmonin protein, fused to His-tag at N-terminus, was expressed inE.coliand purified by using conventional chromatography. MW = 64.6 kDa (570aa).

Specification

• Cat. No.: USH1C-475H
• 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.
• Source: E.coli.
• 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.
• Form: Liquid. In 20 mM Tris-HCl buffer (pH 8.0) containing 20% glycerol.
• Purity: > 95% by SDS – PAGE.
• Concentration: 1 mg/ml (determined by Bradford assay).
• Storage: Can be stored at +4°C short term (1-2 weeks). For long term storage, aliquot and store at -20°C or -70°C. Avoid repeated freezing and thawing cycles.

Gene Information

• Gene Name: USH1C Usher syndrome 1C (autosomal recessive, severe) [ Homo sapiens ]
• Synonyms: USH1C; Usher syndrome 1C (autosomal recessive, severe); PDZ73; AIE-75; DFNB18; PDZ-45; PDZ-73; NY-CO-37; NY-CO-38; ush1cpst; PDZ-73/NY-CO-38; harmonin; deafness, autosomal recessive 18; PDZ73; PDZ-73; 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; AIE75
• Gene ID: 10083
• mRNA Refseq: NM_005709
• Protein Refseq: NP_005700
• MIM: 605242
• UniProt ID: Q9Y6N9
• Chromosome Location: 11p14.3
• Function: protein binding