This gene encodes a scaffold protein that functions in the assembly of Usher protein complexes. The protein contains PDZ domains, a coiled-coil region with a bipartite nuclear localization signal and a PEST degradation sequence. Defects in this gene are the cause of Usher syndrome type 1C and non-syndromic sensorineural deafness autosomal recessive type 18. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq]Sequence: FTPEQIMGKDVRLLRIKKEGSLDLALEGGVDSPIGKVVVSAVYERGAAERHGGIVKGDEIMAINGKIVTDYTLAEADAALQKAWNQGGDWIDLVVAVCPPKEYDDELTFF
|USH1C (Human) Recombinant Protein (Q01)|
|Antibody Production, Enzyme-linked Immunoabsorbent Assay, Protein Array, Western Blot (Recombinant protein)|
|Store at -80°C. Aliquot to avoid repeated freezing and thawing.|
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