The Wolframin gene encodes a protein found in endoplasmic reticulum membrane of several tissues including brain, pancreas, lung and placenta.
Loss-of-function mutations in both alleles result in Wolfram syndrome (also known as DIDMOAD, an autosomal recessive disorder that causes juvenile diabetes mellitus, diabetes insipidus, optic atrophy and a number of neurological symptoms including deafness, ataxia and peripheral neuropathy.
A large number and variety of mutations in this gene, particularly in exon 8, can be associated with Wolfram syndrome.
Mutations in this gene can also cause autosomal dominant deafness 6 (DFNA6), also known as DFNA14 or DFNA38.
Applications:Suitable for use in ELISA, Western Blot and Immunohistochemistry.
Other applications not tested.
Recommended Dilution:Optimal 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：50ul
Host：rabbit
Source Antibody：human
Grade：Affinity Purified
Purity：Purified by immunoaffinity chromatography.
Form：Supplied as a liquid in PBS, pH 7.3, 0.09% sodium azide, 50% glycerol.
Specificity：Recognizes human WFS1. Species Crossreactivity: mouse and rat
