RecName: Full=Harmonin; AltName: Full=Antigen NY-CO-38/NY-CO-37; AltNa - Protein

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Expression and subcellular localization of USH1C/harmonin in human retina provides insights into pathomechanisms and therapy. [Hum Mol Genet. 2023]
Expression and subcellular localization of USH1C/harmonin in human retina provides insights into pathomechanisms and therapy.
Nagel-Wolfrum K, Fadl BR, Becker MM, Wunderlich KA, Schäfer J, Sturm D, Fritze J, Gür B, Kaplan L, Andreani T, et al. Hum Mol Genet. 2023 Jan 13; 32(3):431-449.
Conformational switch of harmonin, a submembrane scaffold protein of the hair cell mechanoelectrical transduction machinery. [FEBS Lett. 2017]
Conformational switch of harmonin, a submembrane scaffold protein of the hair cell mechanoelectrical transduction machinery.
Bahloul A, Pepermans E, Raynal B, Wolff N, Cordier F, England P, Nouaille S, Baron B, El-Amraoui A, Hardelin JP, et al. FEBS Lett. 2017 Aug; 591(15):2299-2310. Epub 2017 Jul 10.
Meta-analysis of gross insertions causing human genetic disease: novel mutational mechanisms and the role of replication slippage. [Hum Mutat. 2005]
Meta-analysis of gross insertions causing human genetic disease: novel mutational mechanisms and the role of replication slippage.
Chen JM, Chuzhanova N, Stenson PD, Férec C, Cooper DN. Hum Mutat. 2005 Feb; 25(2):207-21.

RefSeq genomic sequence
See the genomic reference sequence for the USH1C gene (NG_011883.2).
RefSeq protein isoforms
See 23 reference sequence protein isoforms for the USH1C gene.

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Q9Y6N9 [Domain Mapping of Disease Mut...]
Q9Y6N9
Domain Mapping of Disease Mutations
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
reagent reviews [ExactAntigen/Labome]
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ExactAntigen/Labome
reagents [ExactAntigen/Labome]
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ExactAntigen/Labome

RecName: Full=Harmonin; AltName: Full=Antigen NY-CO-38/NY-CO-37; AltName: Full=A...
RecName: Full=Harmonin; AltName: Full=Antigen NY-CO-38/NY-CO-37; AltName: Full=Autoimmune enteropathy-related antigen AIE-75; AltName: Full=Protein PDZ-73; AltName: Full=Renal carcinoma antigen NY-REN-3; AltName: Full=Usher syndrome type-1C protein
gi|160113087|sp|Q9Y6N9.3|USH1C_HUMA

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