WFS1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human WFS1 wild-type allele is located in the vicinity of 4p16.1 and is approximately 33 kb in length. This allele, which encodes wolframin protein, is involved in calcium homeostasis and the unfolded protein response in the endoplasmic reticulum. Mutations in the gene are associated with cataract 41, autosomal dominant deafness 6/14/38, Wolfram syndrome 1 and autosomal dominant Wolfram-like syndrome.

**Synonyms:** - CTRCT41 - DFNA14 - DFNA38 - DFNA6 - DIDMOAD - WFRS - WFS - WFSL - Wolfram Syndrome 1 (Wolframin) Gene - Wolframin ER Transmembrane Glycoprotein wt Allele