Symbol: Name: ID: |
WFS1 Wolfram syndrome 1 (wolframin) GFS:2523 |
Gene name: | WFS1 |
Chromosome: | 4p16.1 |
Previous Symbols: | DFNA6, DFNA14, DFNA38 |
Previous Names: | |
Aliases: | DIDMOAD, WFS |
Name Aliases: | |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:1328355 | Rat Genome Database ID: | RGD:68954 |
HGNC ID: | HGNC:12762 | RefSeq IDs: | NM_001145853 |
Entrez Gene ID: | 7466 | Ensembl Gene ID: | ENSG00000109501 |
VEGA IDs: | OTTHUMG00000090431 | UniProt ID: | O76024 |
UCSC ID: | uc003gix.2 | OMIM ID: | 606201 |
Pubmed: | PMID7987399 PMID 9771706 | ||
CCDS IDs: | CCDSCCDS3386.1 |
Wolframin is a protein that in humans is encoded by the WFS1 gene.
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].
Function: Participates in the regulation of cellular Ca(2+) homeostasis, at least partly, by modulating the filling state of the endoplasmic reticulum Ca(2+) store.
Products for WFS1 gene
Catalog | Product Name | Application | Company |
GFS:E02523 | Wolfram syndrome 1 (wolframin); ELISA kit | ELISA | n/a |
GFS:A02523 | Wolfram syndrome 1 (wolframin); Anti | ANTIBODIES | n/a |
GFS:P02523 | Wolfram syndrome 1 (wolframin); Protien | Protien | n/a |