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ABclonal Technology WFS1 Rabbit mAb
Supplier: ABclonal Technology A23244100UL
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
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