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Reviewed April 2012
What is the official name of the WFS1 gene?
The official name of this gene is “Wolfram syndrome 1 (wolframin).”
WFS1 is the gene's official symbol. The WFS1 gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.
What is the normal function of the WFS1 gene?
The WFS1 gene provides instructions for producing a protein called wolframin that is thought to regulate the amount of calcium in cells. A proper calcium balance is important for many different cellular functions, including cell-to-cell communication, the tensing (contraction) of muscles, and protein processing. The wolframin protein is found in many different tissues, such as the pancreas, brain, heart, bones, muscles, lungs, liver, and kidneys.
Within cells, wolframin is located in the membrane of a structure called the endoplasmic reticulum. Among its many activities, the endoplasmic reticulum folds and modifies newly formed proteins so they have the correct 3-dimensional shape to function properly. The endoplasmic reticulum also helps transport proteins and other molecules to specific sites within the cell or to the cell surface. Wolframin is thought to play a role in protein folding and aid in the maintenance of endoplasmic reticulum function by regulating calcium levels. In the pancreas, wolframin may help fold a protein precursor of insulin (called proinsulin) into the mature hormone that controls blood glucose levels. In the inner ear, wolframin may help maintain the proper levels of calcium ions or other charged particles that are essential for hearing.
How are changes in the WFS1 gene related to health conditions?
Where is the WFS1 gene located?
Cytogenetic Location: 4p16.1
Molecular Location on chromosome 4: base pairs 6,269,850 to 6,303,265
The WFS1 gene is located on the short (p) arm of chromosome 4 at position 16.1.
More precisely, the WFS1 gene is located from base pair 6,269,850 to base pair 6,303,265 on chromosome 4.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about WFS1?
You and your healthcare professional may find the following resources about WFS1 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
What other names do people use for the WFS1 gene or gene products?
See How are genetic conditions and genes named? in the Handbook.
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding WFS1?
acids ; apoptosis ; atrophy ; autosomal ; autosomal dominant ; calcium ; cell ; charged particles ; contraction ; diabetes ; diabetes mellitus ; DNA ; endoplasmic reticulum ; gene ; glucose ; hormone ; insulin ; ions ; mutation ; optic atrophy ; optic nerve ; pancreas ; precursor ; protein ; syndrome
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (15 links)
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.