| Primary Identifier | IPR026209 | Type | Family |
| Short Name | Wolframin_fam |
| description | Wolframin, a multi-pass membrane protein found in the endoplasmic reticulum, is expressed by the Wolfram syndrome 1 gene (WFS1) []. 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 []- this syndrome is characterised by diabetes insipidus, childhood-onset diabetes mellitus, gradual loss of vision owing to optic atrophy, and deafness []. It is a rare autosomal recessive disorder, and may give rise to other complications affecting the bladder and nervous system.Wolframin homologues have been identified in a range of species, from mammals and amphibia to insects. Notwithstanding regions of high similarity, vertebrate and invertebrate wolframins exhibit characteristic lineage- specific differences. This entry represents the Wolframin family, and includes homologues from invertebrates. |
