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USH1C Produits

(Usher Syndrome 1C (Autosomal Recessive, Severe) (USH1C))

Catégories

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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Catégories USH1C en vedette

USH1C Anticorps

High quality antibodies with extensive validation data.

USH1C Protéines

Proteins for various applications incl. WB, ELISA, IF etc.

USH1C recommandé Anticorps

Produit
Reactivity
Application
Validations
N° du produit
Quantité
Fiche technique
Reactivity Zebrafish (Danio rerio)
Application WB
Validations
  • (4)
N° du produit ABIN1683223
Quantité 100 μg
Fiche technique Fiche technique
Reactivity Human, Mouse
Application WB
Validations
  • (4)
  • (2)
N° du produit ABIN1881984
Quantité 400 μL
Fiche technique Fiche technique
Reactivity Human, Mouse, Rat
Application IHC
Validations
  • (3)
N° du produit ABIN7261032
Quantité 200 μL
Fiche technique Fiche technique

USH1C recommandé Kits ELISA

Produit
Reactivity
Analytical Method
Validations
N° du produit
Quantité
Fiche technique
Reactivity Human
Analytical Method Quantitative Sandwich ELISA
Validations
N° du produit ABIN6229188
Quantité 96 tests
Fiche technique Fiche technique

USH1C recommandé Protéines

Produit
Reactivity
Source
Validations
N° du produit
Quantité
Fiche technique
Reactivity Human
Source Escherichia coli (E. coli)
Validations
  • (1)
N° du produit ABIN667114
Quantité 100 μg
Fiche technique Fiche technique
Reactivity Human
Source Wheat germ
Validations
  • (1)
N° du produit ABIN1324734
Quantité 10 μg
Fiche technique Fiche technique
Reactivity Human
Source Wheat germ
Validations
  • (1)
N° du produit ABIN1324733
Quantité 25 μg
Fiche technique Fiche technique

Dernières publications sur nos produits USH1C

Pan, Askew, Galvin, Heman-Ackah, Asai, Indzhykulian, Jodelka, Hastings, Lentz, Vandenberghe, Holt, Géléoc: "Gene therapy restores auditory and vestibular function in a mouse model of Usher syndrome type 1c." dans: Nature biotechnology, Vol. 35, Issue 3, pp. 264-272, (2017) (PubMed).

McConnell, Benesh, Mao, Tabb, Tyska: "Proteomic analysis of the enterocyte brush border." dans: American journal of physiology. Gastrointestinal and liver physiology, Vol. 300, Issue 5, pp. G914-26, (2011) (PubMed).

Yan, Pan, Chen, Wu, Zhang: "The structure of the harmonin/sans complex reveals an unexpected interaction mode of the two Usher syndrome proteins." dans: Proceedings of the National Academy of Sciences of the United States of America, Vol. 107, Issue 9, pp. 4040-5, (2010) (PubMed).

Jaijo, Aller, García-García, Aparisi, Bernal, Avila-Fernández, Barragán, Baiget, Ayuso, Antiñolo, Díaz-Llopis, Külm, Beneyto, Nájera, Millán: "Microarray-based mutation analysis of 183 Spanish families with Usher syndrome." dans: Investigative ophthalmology & visual science, Vol. 51, Issue 3, pp. 1311-7, (2010) (PubMed).

Zallocchi, Sisson, Cosgrove: "Biochemical characterization of native Usher protein complexes from a vesicular subfraction of tracheal epithelial cells." dans: Biochemistry, Vol. 49, Issue 6, pp. 1236-47, (2010) (PubMed).

Pan, Yan, Wu, Zhang: "Assembling stable hair cell tip link complex via multidentate interactions between harmonin and cadherin 23." dans: Proceedings of the National Academy of Sciences of the United States of America, Vol. 106, Issue 14, pp. 5575-80, (2009) (PubMed).

Verpy, Leibovici, Zwaenepoel, Liu, Gal, Salem, Mansour, Blanchard, Kobayashi, Keats, Slim, Petit: "A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C." dans: Nature genetics, Vol. 26, Issue 1, pp. 51-5, (2000) (PubMed).

Hanna, Kruskal, Ezekowitz, Bloom, Collier: "Role of macrophage oxidative burst in the action of anthrax lethal toxin." dans: Molecular medicine (Cambridge, Mass.), Vol. 1, Issue 1, pp. 7-18, (1996) (PubMed).

Synonymes et noms alternatifs relatifs à USH1C

USH1 protein network component harmonin (USH1C), harmonin (CpipJ_CPIJ012732), USH1 protein network component harmonin (Ush1c), Usher syndrome 1C (ush1c), USH1 protein network component harmonin L homeolog (ush1c.L), 2010016F01Rik, AIE-75, DFNB18, DFNB18A, harmonin, NY-CO-37, NY-CO-38, PDZ-45, PDZ-73, PDZ-73/NY-CO-38, PDZ73, PDZD7C, ush1c, ush1cpst, zgc:136806

Protein level used designations for USH1C

  • antigen NY-CO-38/NY-CO-37
  • autoimmune enteropathy-related antigen AIE-75
  • harmonin
  • renal carcinoma antigen NY-REN-3
  • usher syndrome type-1C protein
  • PDZ domain-containing protein
  • Usher syndrome 1C homolog
  • usher syndrome type-1C protein homolog
  • harmonin a1
  • Usher syndrome 1C (autosomal recessive, severe)
  • harmonin pseudogene
  • USH1 protein network component harmonin L homeolog
  • Usher syndrome 1C L homeolog
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