Recombinant human Harmonin/USH1C protein

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.

Product Specifications

Product Name Alternative

AIE 75, Autoimmune enteropathy related antigen AIE 75, Deafness autosomal recessive 18, DFNB 18, Harmonin, NY CO 37, NY CO 38, PDZ 45, PDZ 73, Renal carcinoma antigen NY REN 3, USH 1C, Ush1cpst, Usher syndrome 1C (autosomal recessive severe), Usher syndrome type 1C protein

Expression System

E.coli

Antigen Species

Human

Tag

His-Tag

Applications

SDS-PAGE

Concentration

1 mg/mL (determined by Bradford assay)

Purity

> 95% by SDS-PAGE

Molecular Weight

64.6 kDa (570aa)

Additionnal Information

AIE 75, AIE75, AIE-75, Antigen NY CO 38/NY CO 37, Autoimmune enteropathy related antigen AIE 75, Autoimmune enteropathy related antigen AIE75, Deafness autosomal recessive 18, DFNB 18, DFNB18, Harmonin, NY CO 37, NY CO 38, NY-CO-37, NY-CO-38, PDZ 45, PDZ 73, PDZ 73 protein, PDZ 73/NY CO 38, PDZ45, PDZ-45, PDZ73, PDZ-73, PDZ73 protein, PDZ-73/NY-CO-38, Renal carcinoma antigen NY REN 3, uSH 1C, uSH1C, ush1cpst, usher syndrome 1C, usher syndrome 1C (autosomal recessive severe), usher syndrome type 1C protein, ATGP0337-10 µg, ATGP0337-20 µg, ATGP0337-50 µg, ATGP0337-100 µg, ATGP0337-250 µg, ATGP0337-500 µg, ATGP0337-1 mg, ATGP0337-010, ATGP0337-020, ATGP0337-050, ATGP0337-100, ATGP0337-250, ATGP0337-500, ATGP0337-01M

References & Citations

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.;

Storage Conditions

Can be stored at 2°C to 8°C for 1 week. For long term storage, aliquot and store at -20C to -80C. Avoid repeated freezing and thawing cycles.

Formulation

Liquid in. 20 mM Tris-HCl buffer (pH 8.0) containing 20% glycerol

Scientific Category

Cell Cycle

NCBI Accession Number

AAH16057

Uniprot Accession Number

Q9Y6N9

Species

Human

AA 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