Wolfram Syndrome Protein 1, ELISA Kit

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

Store all reagents at 2-8 degree C

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Small volumes of WFS1 elisa kit 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.

MBS065617 is a ready-to-use microwell, strip plate ELISA (enzyme-linked immunosorbent assay) Kit for analyzing the presence of the Wolfram Syndrome Protein 1 (WFS1) ELISA Kit target analytes in biological samples. The concentration gradients of the kit standards or positive controls render a theoretical kit detection range in biological research samples containing WFS1. The ELISA analytical biochemical technique of the MBS065617 kit is based on WFS1 antibody-WFS1 antigen interactions (immunosorbency) and an HRP colorimetric detection system to detect WFS1 antigen targets in samples. The ELISA Kit is designed to detect native, not recombinant, WFS1. Appropriate sample types may include undiluted body fluids and/or tissue homogenates, secretions. Quality control assays assessing reproducibility identified the intra-assay CV (%) and inter-assay CV(%).

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

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; protein stabilization; olfactory behavior; 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; cellular protein metabolic process; unfolded protein response, activation of signaling protein activity; 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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