WFS1 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.
Applications:Suitable for use in Western Blot and ELISA.
Other applications not tested.
Recommended Dilution:Western Blot: 1:500-1:2000ELISA: 1:5000-1:20,000Optimal dilutions to be determined by the researcher.
Storage and Stability:May be stored at 4°C for short-term only.
Aliquot to avoid repeated freezing and thawing.
Store at -20°C.
Aliquots are stable for 12 months after receipt.
For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.
仕様
Size:100ul
Host:rabbit
Source Antibody:human
Grade:Affinity Purified
Purity:Purified by immunoaffinity chromatography.
Form:Supplied as a liquid in PBS, pH 7.4, 0.02% sodium azide, 50% glycerol.
Specificity:Recognizes endogenous levels of human WFS1. Species Crossreactivity: mouse
Isotype:IgG
Calc Applications Abbrev:E WB
Calc Crossreactivity:Hu Mo
Immunogen:Synthetic peptide corresponding to human WFS1.