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PMID:9817917

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Citation

Strom, TM, Hörtnagel, K, Hofmann, S, Gekeler, F, Scharfe, C, Rabl, W, Gerbitz, KD and Meitinger, T (1998) Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein. Hum. Mol. Genet. 7:2021-8

Abstract

Wolfram syndrome is an autosomal recessive disorder characterized by juvenile diabetes mellitus, diabetes insipidus, optic atrophy and a number of neurological symptoms including deafness, ataxia and peripheral neuropathy. Mitochondrial DNA deletions have been described in a few patients and a locus has been mapped to 4p16 by linkage analysis. Susceptibility to psychiatric illness is reported to be high in affected individuals and increased in heterozygous carriers in Wolfram syndrome families. We screened four candidate genes in a refined critical linkage interval covered by an unfinished genomic sequence of 600 kb. One of these genes, subsequently named wolframin, codes for a predicted transmembrane protein which was expressed in various tissues, including brain and pancreas, and carried loss-of-function mutations in both alleles in Wolfram syndrome patients.

Links

PubMed

Keywords

Adolescent; Adult; Amino Acid Sequence; Animals; Child; Chromosomes, Human, Pair 4/genetics; DNA/chemistry; DNA/genetics; DNA/isolation & purification; Exons; Family Health; Female; Genes/genetics; Genetic Markers; Humans; Introns; Male; Membrane Proteins/genetics; Mice; Molecular Sequence Data; Mutation; Pedigree; Physical Chromosome Mapping; Polymorphism, Single-Stranded Conformational; Sequence Alignment; Sequence Analysis, DNA; Sequence Homology, Amino Acid; Wolfram Syndrome/genetics

Significance

Annotations

Gene product Qualifier GO Term Evidence Code with/from Aspect Extension Notes Status

HUMAN:WFS1

involved_in

GO:0043524: negative regulation of neuron apoptotic process

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

HUMAN:WFS1

involved_in

GO:0050877: nervous system process

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

HUMAN:WFS1

involved_in

GO:0001822: kidney development

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

HUMAN:WFS1

involved_in

GO:0003091: renal water homeostasis

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

HUMAN:WFS1

involved_in

GO:0007601: visual perception

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

HUMAN:WFS1

involved_in

GO:0042593: glucose homeostasis

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete


See also

References

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