Non disponible en dehors du Royaume-Uni et de l'Irlande
General description
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)
Immunogen
USH1C (AAH16057, 424 a.a. ~ 533 a.a) partial recombinant protein with GST tag. MW of the GST tag alone is 26 KDa.SequenceFTPEQIMGKDVRLLRIKKEGSLDLALEGGVDSPIGKVVVSAVYERGAAERHGGIVKGDEIMAINGKIVTDYTLAEADAALQKAWNQGGDWIDLVVAVCPPKEYDDELTFF
Physical form
Solution in phosphate buffered saline, pH 7.4
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