Harmonin/USH1C Protein, Human, Recombinant (His)

カタログ番号 TMPY-02176

別名: PDZD7C, PDZ-73, PDZ73, DFNB18A, PDZ-73/NY-CO-38, DFNB18, NY-CO-37, PDZ-45, NY-CO-38, Usher syndrome 1C (autosomal recessive, severe), AIE-75, ush1cpst

Harmonin, also known as Antigen NY-CO-38 / NY-CO-37, Autoimmune enteropathy-related antigen AIE-75, Protein PDZ-73, Renal carcinoma antigen NY-REN-3, Usher syndrome type-1C protein and USH1C, is a protein that is expressed in small intestine, colon, kidney, eye and weakly in pancreas. USH1C is expressed also in vestibule of the inner ear. USH1C contains 3 PDZ (DHR) domains. USH1C may be involved in protein-protein interaction. Defects in USH1C are the cause of Usher syndrome type 1C (USH1C), also known as Usher syndrome type I Acadian variety. USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa and sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). Defects in USH1C are also the cause of deafness autosomal recessive type 18 (DFNB18) which is a form of sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.

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Harmonin/USH1C Protein, Human, Recombinant (His)

パッケージサイズ	在庫状況	単価(税別)
100 μg	約5 days	￥ 138,000
1 mg	約5 days	￥ 897,500

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生物学的特性に関する説明

Technical Params

Product Properties

参考文献

説明

Species	Human
Expression Host	E. coli
Tag	N-His
Accession Number	Q9Y6N9-1
別名	PDZD7C, PDZ-73, PDZ73, DFNB18A, PDZ-73/NY-CO-38, DFNB18, NY-CO-37, PDZ-45, NY-CO-38, Usher syndrome 1C (autosomal recessive, severe), AIE-75, ush1cpst
Construction	The native Human USH1C (Q9Y6N9-1) (Met 1-Phe 552) was expressed, with a polyhistide tag at the N-terminus.
Protein Purity	≥ 90 % as determined by SDS-PAGE
分子量	63.7 kDa (predicted)

Endotoxin	Please contact us for more information.
Formulation	Supplied as sterile 50 mM Tris, 20% glycerol, pH 7.7.
Reconstitution	A Certificate of Analysis (CoA) containing reconstitution instructions is included with the products. Please refer to the CoA for detailed information.
Stability & Storage	It is recommended to store the product under sterile conditions at -20℃ to -80℃. Samples are stable for up to 12 months. Please avoid multiple freeze-thaw cycles and store products in aliquots.
Shipping	In general, Lyophilized powders are shipping with blue ice. Solutions are shipping with dry ice.
Research Background	Harmonin, also known as Antigen NY-CO-38 / NY-CO-37, Autoimmune enteropathy-related antigen AIE-75, Protein PDZ-73, Renal carcinoma antigen NY-REN-3, Usher syndrome type-1C protein and USH1C, is a protein that is expressed in small intestine, colon, kidney, eye and weakly in pancreas. USH1C is expressed also in vestibule of the inner ear. USH1C contains 3 PDZ (DHR) domains. USH1C may be involved in protein-protein interaction. Defects in USH1C are the cause of Usher syndrome type 1C (USH1C), also known as Usher syndrome type I Acadian variety. USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa and sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). Defects in USH1C are also the cause of deafness autosomal recessive type 18 (DFNB18) which is a form of sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.

参考文献

1. Verpy, E. et al., 2000, Nat Genet. 26 (1):51-5. 2. Weil D., et al., 2003, Hum. Mol. Genet. 12:463-471. 3. Reiners,J. et al., 2005, Hum Mol Genet. 14 (24):3933-43. 4. Yan,D. et al., 2006, Mol Biol. 357 (3):755-64.

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Keywords

Harmonin/USH1C Protein, Human, Recombinant (His) PDZD7C PDZ-73 PDZ 73 PDZ73 DFNB18A PDZ-73/NY-CO-38 DFNB18 PDZ 45 NY-CO-37 Usher syndrome 1C PDZ-45 DFNB 18 DFNB-18 NY-CO-38 Usher syndrome 1C (autosomal recessive, severe) AIE75 AIE-75 AIE 75 ush1cpst autosomal recessive, severe PDZ45 recombinant recombinant-proteins proteins protein