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. Source: Harmonin was expressed in E.coli and purified by using conventional chromatography. Molecular Weight: 64.6kD (570aa) 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. Storage and Stability: For long-term storage, aliquot and store at -20C/-70C. Aliquots are stable for at least 6 months at -20C/-70C. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap. Further dilutions can be made in assay buffer.
Molecular Weight:
64.6
Purity:
95% by SDS-PAGE.
Form:
Supplied as a liquid in 20mM Tris-HCl, pH 8.0, 20% glycerol.
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