Name: WFS1 抗原（重組蛋白）
Brand: 通蔚生物

中文名稱： WFS1 抗原（重組蛋白）

英文名稱： WFS1 Antigen (Recombinant Protein)

別名： Wolfram syndrome 1 (wolframin); WFS; WFRS; WFSL; CTRCT41

相關類別：抗原

儲存： 冷凍（-20℃）

概述

Fusion protein corresponding to a region derived from 691-890 amino acids of human WFS1

技術規(guī)格

Full name:	Wolfram syndrome 1 (wolframin)
Synonyms:	WFS; WFRS; WFSL; CTRCT41
Swissprot:	O76024
Gene Accession:	BC030130
Purity:	>85%, as determined by Coomassie blue stained SDS-PAGE
Expression system:	Escherichia coli
Tags:	His tag C-Terminus, GST tag N-Terminus
Background:	This gene encodes a transmembrane protein, which is located primarily in the endoplasmic reticulum and ubiquitously expressed with highest levels in brain, pancreas, heart, and insulinoma beta-cell lines. Mutations in this gene are associated with Wolfram syndrome, also called DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness), an autosomal recessive disorder. The disease affects the brain and central nervous system. Mutations in this gene can also cause autosomal dominant deafness 6 (DFNA6), also known as DFNA14 or DFNA38. Alternatively spliced transcript variants have been found for this gene.

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