WFS1

Name

wolframin ER transmembrane glycoprotein

Type

protein-coding

Position

6,269,832–6,303,265 (+)

Aliases

CTRCT41, WFRS, WFS, WFSL

Ensembl

ENSG00000109501

RefSeq RNA

NM_001145853.1, NM_006005.3

RefSeq protein

NP_001139325.1, NP_005996.2

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].

via MyGene.info

Gene · Ensembl

wolframin ER transmembrane glycoprotein

Symbol

WFS1

Biotype

Protein coding

Organism

Homo sapiens

Location

4:6,269,832-6,303,265

Strand

Forward (+)

Assembly

GRCh38