USH1C 抗体
(Usher Syndrome 1C (Autosomal Recessive, Severe) (USH1C))
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, Mar 2009].
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Latest Publications for our USH1C 抗体
: "Gene therapy restores auditory and vestibular function in a mouse model of Usher syndrome type 1c." in: Nature biotechnology, Vol. 35, Issue 3, pp. 264-272, (2017) (PubMed).: "Proteomic analysis of the enterocyte brush border." in: American journal of physiology. Gastrointestinal and liver physiology, Vol. 300, Issue 5, pp. G914-26, (2011) (PubMed).
: "The structure of the harmonin/sans complex reveals an unexpected interaction mode of the two Usher syndrome proteins." in: Proceedings of the National Academy of Sciences of the United States of America, Vol. 107, Issue 9, pp. 4040-5, (2010) (PubMed).
: "Microarray-based mutation analysis of 183 Spanish families with Usher syndrome." in: Investigative ophthalmology & visual science, Vol. 51, Issue 3, pp. 1311-7, (2010) (PubMed).
: "Biochemical characterization of native Usher protein complexes from a vesicular subfraction of tracheal epithelial cells." in: Biochemistry, Vol. 49, Issue 6, pp. 1236-47, (2010) (PubMed).
: "Assembling stable hair cell tip link complex via multidentate interactions between harmonin and cadherin 23." in: Proceedings of the National Academy of Sciences of the United States of America, Vol. 106, Issue 14, pp. 5575-80, (2009) (PubMed).
: "A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C." in: Nature genetics, Vol. 26, Issue 1, pp. 51-5, (2000) (PubMed).
: "Role of macrophage oxidative burst in the action of anthrax lethal toxin." in: Molecular medicine (Cambridge, Mass.), Vol. 1, Issue 1, pp. 7-18, (1996) (PubMed).
Aliases for USH1C 抗体
USH1 protein network component harmonin (USH1C) 抗体harmonin (CpipJ_CPIJ012732) 抗体
USH1 protein network component harmonin (Ush1c) 抗体
Usher syndrome 1C (ush1c) 抗体
USH1 protein network component harmonin L homeolog (ush1c.L) 抗体
2010016F01Rik 抗体
AIE-75 抗体
DFNB18 抗体
DFNB18A 抗体
harmonin 抗体
NY-CO-37 抗体
NY-CO-38 抗体
PDZ-45 抗体
PDZ-73 抗体
PDZ-73/NY-CO-38 抗体
PDZ73 抗体
PDZD7C 抗体
ush1c 抗体
ush1cpst 抗体
zgc:136806 抗体
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