Rabbit Polyclonal (IgG) to Human WFS1; Human WFS1; WFS1; DIDMOAD; DFNA14; DFNA6; Wolframin; WFS; WFSL; Wolfram syndrome 1 (wolframin); DFNA38; WFRS; Wolfram Syndrome 1

For Research Use Only. Not for use in diagnostic procedures.

Polyclonal

IgG

Rabbit

Wolframin antibody detects endogenous levels of Wolframin.

Immunoaffinity purified

PBS, pH 7.4, 150 mM sodium chloride, 0.02% sodium azide, 50% glycerol

1 mg/ml (lot specific)

Store at -20 degree C.

Small volumes of anti-WFS1 antibody vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

WFS1 Antibody, DIDMOAD Antibody, DFNA14 Antibody, DFNA6 Antibody, Wolframin Antibody, WFS Antibody, WFSL Antibody, Wolfram syndrome 1 (wolframin) Antibody, DFNA38 Antibody, WFRS Antibody, Wolfram Syndrome 1 Antibody Description: WFS1 is 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.

Immunohistochemistry (IHC) Paraffin, Western Blot (WB), ELISA (EIA)

ELISA (1:10000)
IHC-P (5 ug/ml)
WB (1:500 - 1:1000)

Anti-WFS1 antibody IHC staining of human testis. Immunohistochemistry of formalin-fixed, paraffin-embedded tissue after heat-induced antigen retrieval. Antibody concentration 5 ug/ml.

Western blot of extracts from brain tissue, using Wolframin antibody.

100,292 Da

Wolfram syndrome 1 (wolframin)

wolframin

Wolframin

WFS1_HUMAN

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. [provided by RefSeq, Mar 2009]

WFS1: Participates in the regulation of cellular Ca(2+) homeostasis, at least partly, by modulating the filling state of the endoplasmic reticulum Ca(2+) store. 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.

Protein type: Endoplasmic reticulum; Membrane protein, multi-pass; Membrane protein, integral

Chromosomal Location of Human Ortholog: 4p16.1

Cellular Component: dendrite; endoplasmic reticulum; endoplasmic reticulum membrane; integral to endoplasmic reticulum membrane; proteasome complex

Molecular Function: ATPase binding; protein binding; transcription activator binding; ubiquitin protein ligase binding

Biological Process: calcium ion homeostasis; cellular protein metabolic process; endoplasmic reticulum calcium ion homeostasis; ER overload response; ER-associated protein catabolic process; glucose homeostasis; kidney development; negative regulation of neuron apoptosis; negative regulation of programmed cell death; negative regulation of transcription factor activity; negative regulation of transcription from RNA polymerase II promoter; neurological system process; positive regulation of adenylate cyclase activity; positive regulation of calcium ion transport; positive regulation of growth; positive regulation of protein metabolic process; positive regulation of protein ubiquitination; protein maturation via protein folding; protein stabilization; renal water homeostasis; sensory perception of sound; unfolded protein response; visual perception

Disease: Cataract 41; Deafness, Autosomal Dominant 6; Diabetes Mellitus, Noninsulin-dependent; Wolfram Syndrome 1; Wolfram-like Syndrome, Autosomal Dominant

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