WFS1, Official Symbol WFS1provided by HGNC Official Full Name wolframin ER transmembrane glycoproteinprovided by HGNC Primary source HGNC:HGNC:12762 See related Ensembl:ENSG00000109501 MIM:606201; AllianceGenome:HGNC:12762 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as WFS; WFRS; WFSL; CTRCT41 Summary 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. [provided by RefSeq, Mar 2009] Expression Ubiquitous expression in ovary (RPKM 44.4), fat (RPKM 34.2) and 24 other tissues See more Orthologs mouse all