WFS1 polyclonal antibody

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.