WFS1

WFS1 is a gene that provides instructions for making a protein called wolframin, which is found in many of the body's tissues. The highest levels of wolframin are found in the heart, brain, muscles, pancreas, and inner ear. The exact function of this protein is not fully understood, but it is known to play a crucial role in maintaining the structure and function of the endoplasmic reticulum, a structure within cells that is involved in protein processing and transport.

Function[edit | edit source]

The WFS1 gene is responsible for producing the wolframin protein. This protein is primarily located in the membrane of the endoplasmic reticulum. It is believed to regulate the flow of calcium ions within cells, which is essential for various cellular functions. Wolframin is also thought to play a role in the normal function of insulin-producing cells in the pancreas, and in the survival of nerve cells in the brain and sensory cells in the inner ear.

Clinical significance[edit | edit source]

Mutations in the WFS1 gene are associated with Wolfram syndrome, a rare genetic disorder characterized by diabetes mellitus, optic atrophy, deafness, and various other symptoms. These mutations often lead to a reduction in the amount of wolframin protein, which disrupts the normal function of the endoplasmic reticulum and triggers a cellular response known as the unfolded protein response. This response can lead to cell death, particularly in insulin-producing cells in the pancreas and nerve cells in the brain, leading to the symptoms of Wolfram syndrome.