Family

Wolframin (IPR026208)

Short name: Wolframin

Family relationships

Description

Wolframin, a multi-pass membrane protein found in the endoplasmic reticulum, is expressed by the Wolfram syndrome 1 gene (WFS1) [PMID: 16989814]. The detailed molecular function of the protein is not known, but it is believed to participate, at least in part, in the regulation of cellular calcium homeostasis by modulating the filling state of the endoplasmic reticulum calcium store.

Defects in WFS1 cause Wolfram Syndrome (WFS), also referred to as DIDMOAD [PMID: 9817917] - this syndrome is characterised by diabetes insipidus, childhood-onset diabetes mellitus, gradual loss of vision owing to optic atrophy, and deafness [PMID: 16648378]. It is a rare autosomal recessive disorder, and may give rise to other complications affecting the bladder and nervous system.

GO terms

Biological Process

GO:0055074 calcium ion homeostasis

Molecular Function

No terms assigned in this category.

Cellular Component

GO:0005783 endoplasmic reticulum

Contributing signatures

Signatures from InterPro member databases are used to construct an entry.
PRINTS