WFS1,Wolfram综合征蛋白1抗体

产品编号HZ-11272R
英文名称WFS1
中文名称Wolfram综合征蛋白1抗体
别 名DFNA14; DFNA38; DFNA6; DIDMOAD; WFRS; WFS; Wolfram syndrome 1 (wolframin); Wolfram syndrome; WOLFRAMIN; WFS1_HUMAN.
说 明 书0.1ml 0.2ml
研究领域肿瘤 神经生物学 信号转导 生长因子和激素 糖尿病 新陈代谢
抗体来源Rabbit
克隆类型Polyclonal
交叉反应 Human, Mouse, Rat, Dog, Cow, Horse,
WFS1,Wolfram综合征蛋白1抗体产品应用WB=1:100-500 ELISA=1:500-1000 IHC-P=1:100-500 IHC-F=1:100-500 ICC=1:100-500 IF=1:100-500 （石蜡切片需做抗原修复）
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.
分 子 量97kDa
细胞定位细胞浆 细胞膜
性 状Lyophilized or Liquid
浓 度1mg/1ml
免 疫 原KLH conjugated synthetic peptide derived from human WFS1
亚 型IgG
纯化方法affinity purified by Protein A
储 存 液0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol.
保存条件Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. The lyophilized antibody is stable at room temperature for at least one month and for greater than a year when kept at -20°C. When reconstituted in sterile pH 7.4 0.01M PBS or diluent of antibody the antibody is stable for at least two weeks at 2-4 °C.
WFS1,Wolfram综合征蛋白1抗体PubMedPubMed
产品介绍background:
Wolfram syndrome protein (WFS1) is an 890 amino acid protein that contains a cytoplasmic N-terminal domain, followed by nine-transmembrane domains and a luminal C-terminal domain. WFS1 is predominantly localized to the endoplasmic reticulum (ER) (1) and its expression is induced in response to ER stress, partially through transcriptional activation (2,3). Research studies have shown that mutations in the WFS1 gene lead to Wolfram syndrome, an autosomal recessive neurodegenerative disorder defined by young-onset, non-immune, insulin-dependent diabetes mellitus and progressive optic atrophy (4).

Function:
WFS1 is a novel component of Wolfram syndrome, a rare form of juvenile diabetes. WFS1 plays an important role in maintaining homeostasis of the endoplasmic reticulum (ER) in the pancreas. It is normally up-regulated during insulin secretion, whereas inactivation of the protein can cause ER stress. Chronic ER stress is a major involvement in Wolfram syndrome.

Subcellular Location:
Endoplasmic reticulum; endoplasmic reticulum membrane; multipass membrane protein

Tissue Specificity:
Highly expressed in heart followed by brain, placenta, lung and pancreas. Weakly expressed in liver, kidney and skeletal muscle. Also expressed in islet and beta-cell insulinoma cell line.

WFS1,Wolfram综合征蛋白1抗体DISEASE:
Defects in WFS1 are the cause of Wolfram syndrome type 1 (WFS1) [MIM:222300]. A rare autosomal recessive disorder characterized by juvenile diabetes mellitus, diabetes insipidus, optic atrophy, deafness and various neurological symptoms.
Defects in WFS1 are the cause of deafness autosomal dominant type 6 (DFNA6) [MIM:600965]; also called non-syndromic sensorineural deafness autosomal dominant type 14 (DFNA14) or non-syndromic sensorineural deafness autosomal dominant type 38 (DFNA38). DFNA6 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. DFNA6 is a low-frequency hearing loss in which frequencies of 2000 Hz and below are predominantly affected. Many patients have tinnitus, but there are otherwise no associated features such as vertigo. Because high-frequency hearing is generally preserved, patients retain excellent understanding of speech, although presbycusis or noise exposure may cause high-frequency loss later in life. DFNA6 worsens over time without progressing to profound deafness.
Defects in WFS1 are the cause of Wolfram-like syndrome autosomal dominant (WFSL) [MIM:614296]. A disease characterized by the clinical triad of congenital progressive hearing impairment, diabetes mellitus, and optic atrophy. The hearing impairment, which is usually diagnosed in the first decade of life, is relatively constant and alters mainly low- and middle-frequency ranges.

Gene ID:
7466

Database links:
Entrez Gene: 7466 Human
Entrez Gene: 22393 Mouse
Entrez Gene: 83725 Rat
Omim: 606201 Human
SwissProt: O76024 Human
SwissProt: P56695 Mouse
Unigene: 518602 Human
Unigene: 20916 Mouse
Unigene: 229139 Rat

WFS1,Wolfram综合征蛋白1抗体Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. 

产品图片	Lane 1: (human/cell line)HepG2 lysates probed with RNF160 Polyclonal Antibody, Unconjugated (Catalog #HZ-11272R) at 1:300 overnight at 4ⅹC. Followed by a conjugated secondary antibody (Secondary Catalog #926-32211) at 1:10000 for 60 min at 37ⅹC