Recombinant Human USH1C / Harmonin Protein (His tag)

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 which 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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基本信息

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货号 TP07548
规格 20ug,50ug,100ug…
宿主 E.coli
Accession Q9Y6N9-1
分子大小 63.7 kDa
AP_Mol_Weight 63.7 kDa
Tag N-His
蛋白序列 Met 1-Phe 552
纯度 > 95% by HPLC
浓度
配方 PBS
别名 AIE-75;DFNB18;DFNB18A;NY-CO-37;NY-CO-38;PDZ-45;PDZ-73;PDZ-73/NY-CO-38;PDZ73;PDZD7C;ush1cpst
生物学活性
保存条件 4°C 短期保存 (1-2 周). 长期保存在 -20°C or -70°C. 避免反复冻融.
注意 仅用于科学研究, 不能用于疾病诊断.

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