Mus musculus Raw sequence reads. Mus musculus

WFS1 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.

WFS1基因编码一种跨膜蛋白（transmembrane protein），该蛋白主要定位于内质网（endoplasmic reticulum），在全身广泛表达，其中脑、胰腺、心脏及胰岛素瘤β细胞系中的表达水平最高。该基因的突变与沃尔夫拉姆综合征（Wolfram syndrome）相关，该综合征亦称DIDMOAD（即尿崩症、糖尿病、视神经萎缩与耳聋综合征），属于常染色体隐性遗传病。该病可累及大脑与中枢神经系统。该基因的突变还可导致常染色体显性遗传性耳聋6型（DFNA6），亦称DFNA14或DFNA38。目前已发现该基因存在多种可变剪接转录本变体。