RGD Reference Report - A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome). - Rat Genome Database

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A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome).

Authors: Inoue, H  Tanizawa, Y  Wasson, J  Behn, P  Kalidas, K  Bernal-Mizrachi, E  Mueckler, M  Marshall, H  Donis-Keller, H  Crock, P  Rogers, D  Mikuni, M  Kumashiro, H  Higashi, K  Sobue, G  Oka, Y  Permutt, MA 
Citation: Inoue H, etal., Nat Genet. 1998 Oct;20(2):143-8.
RGD ID: 1599813
Pubmed: PMID:9771706   (View Abstract at PubMed)
DOI: DOI:10.1038/2441   (Journal Full-text)

Wolfram syndrome (WFS; OMIM 222300) is an autosomal recessive neurodegenerative disorder defined by young-onset non-immune insulin-dependent diabetes mellitus and progressive optic atrophy. Linkage to markers on chromosome 4p was confirmed in five families. On the basis of meiotic recombinants and disease-associated haplotypes, the WFS gene was localized to a BAC/P1 contig of less than 250 kb. Mutations in a novel gene (WFS1) encoding a putative transmembrane protein were found in all affected individuals in six WFS families, and these mutations were associated with the disease phenotype. WFS1 appears to function in survival of islet beta-cells and neurons.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Wolfram syndrome  IAGP 1599813 RGD 
Wolfram syndrome  ISOWFS1 (Homo sapiens)1599813; 1599813 RGD 

Objects Annotated

Genes (Rattus norvegicus)
Wfs1  (wolframin ER transmembrane glycoprotein)

Genes (Mus musculus)
Wfs1  (wolframin ER transmembrane glycoprotein)

Genes (Homo sapiens)
WFS1  (wolframin ER transmembrane glycoprotein)


Additional Information