| wolframin ER transmembrane glycoprotein | OKDB#: 5763 |
| Symbols: | WFS1 | Species: | human | ||
| Synonyms: | WFS, WFRS, WFSL, CTRCT41 | Locus: | 4p16.1 in Homo sapiens |
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Entrez Gene
Mammalian Reproductive Genetics Endometrium Database Resource Orthologous Genes UCSC Genome Browser GEO Profiles new! Amazonia (transcriptome data) new! R-L INTERACTIONS MGI |
| General Comment | NCBI 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] | ||||
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| Cellular localization | ER | ||||
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| Ovarian localization | Granulosa | ||||
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| Mutations | 0 mutations | ||||
| Genomic Region | show genomic region | ||||
| Phenotypes and GWAS | show phenotypes and GWAS | ||||
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| created: | April 26, 2020, 12:59 p.m. | by: |
system email:
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| last update: | April 26, 2020, 1 p.m. | by: | hsueh email: |
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