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- Table of Contents
Facts about Wolframin.
Human | |
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Gene Name: | WFS1 |
Uniprot: | O76024 |
Entrez: | 7466 |
Belongs to: |
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No superfamily |
DFNA14; DFNA38; DFNA6; DIDMOAD; FLJ51211; WFRS; WFS1; WFSwolframin; Wolfram syndrome 1 (wolframin); Wolframin
Mass (kDA):
100.292 kDA
Human | |
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Location: | 4p16.1 |
Sequence: | 4; NC_000004.12 (6260368..6303265) |
Highly expressed in heart followed by brain, placenta, lung and pancreas. Weakly expressed in liver, kidney and skeletal muscle. Also expressed in islet and beta-cell insulinoma cell line.
Endoplasmic reticulum membrane; Multi-pass membrane protein.
PMID: 9817917 by Strom T.M., et al. Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein.
PMID: 9771706 by Inoue H., et al. A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram Syndrome).