WFS1 : wolframin ER transmembrane glycoprotein
Description
The WFS1 (wolframin ER transmembrane glycoprotein) is a protein-coding gene located on chromosome 4.
The WFS1 gene produces wolframin, a protein that regulates calcium levels in cells. This calcium balance is crucial for various cellular functions, including communication between cells, muscle contraction, and protein processing. Wolframin is found in multiple tissues, such as the pancreas, brain, heart, bones, muscles, lungs, liver, and kidneys. Within cells, it resides in the endoplasmic reticulum's membrane, which folds and modifies proteins for proper function and transports them within the cell or to the cell surface. Wolframin is thought to assist in protein folding and maintain endoplasmic reticulum function by controlling calcium levels. In the pancreas, it may contribute to the transformation of a precursor of insulin into its active form, regulating blood glucose levels. In the inner ear, it might maintain the appropriate calcium ion concentration for hearing.
WFS1 is also known as CTRCT41, WFRS, WFS, WFSL.
Associated Diseases
- Deafness, autosomal dominant 6
- Cataract, nuclear total
- Wolfram syndrome
- Diabetes mellitus, noninsulin-dependent
- Wolfram syndrome 1
- Wolfram-Like syndrome, autosomal dominant
- Wolfram-like syndrome
- Nonsyndromic hearing loss
