Wolframin

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

Polyclonal

Rabbit

Recognizes endogenous levels of WFS1 protein.

The antibody was purified by immunogen affinity chromatography.

Liquid in 0.42% Potassium phosphate, 0.87% Sodium chloride, pH 7.3, 30% glycerol, and 0.01% sodium azide.

Shipped at 4 degree C. Upon delivery aliquot and store at -20 degree C for one year. Avoid freeze/thaw cycles.

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.

Rabbit polyclonal antibody to WFS1

Western Blot (WB)

WB (1/500 - 1/1000)

Western blot analysis of WFS1 expression in HeLa (A), Raw264.7 (B), H9C2 (C) whole cell lysates.

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: endoplasmic reticulum membrane; endoplasmic reticulum; dendrite; integral to endoplasmic reticulum membrane

Molecular Function: calmodulin binding; transcription activator binding; transporter activity; ubiquitin protein ligase binding; calcium-dependent protein binding; ATPase binding

Biological Process: ER-associated protein catabolic process; protein maturation via protein folding; olfactory behavior; protein stabilization; positive regulation of proteolysis; unfolded protein response; negative regulation of transcription factor activity; glucose homeostasis; positive regulation of protein metabolic process; neurological system process; calcium ion homeostasis; endoplasmic reticulum calcium ion homeostasis; unfolded protein response, activation of signaling protein activity; cellular protein metabolic process; sensory perception of sound; visual perception; positive regulation of protein ubiquitination; negative regulation of programmed cell death; renal water homeostasis; negative regulation of neuron apoptosis; positive regulation of calcium ion transport; kidney development; positive regulation of growth; ER overload response

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

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