SIL1
SIL1 nucleotide exchange factor
Normal Function
Health Conditions Related to Genetic Changes
Marinesco-Sjögren syndrome
More than a dozen mutations in the SIL1 gene have been found to cause Marinesco-Sjögren syndrome. Most of these mutations result in the production of a protein that has little or no activity. Defective SIL1 protein cannot remove ADP from BiP. BiP is then unable to bind to ATP and re-start the protein folding process. A disruption in protein folding impairs protein transport and causes proteins to accumulate in the endoplasmic reticulum. This accumulation likely damages and destroys cells in many different tissues, leading to poor coordination, muscle weakness, and the other features of Marinesco-Sjögren syndrome.
More About This Health ConditionRelated Conditions
Marinesco-Sjögren syndrome
Health Conditions Related to Genetic Changes
More than a dozen mutations in the SIL1 gene have been found to cause Marinesco-Sjögren syndrome. Most of these mutations result in the production of a protein that has little or no activity. Defective SIL1 protein cannot remove ADP from BiP. BiP is then unable to bind to ATP and re-start the protein folding process. A disruption in protein folding impairs protein transport and causes proteins to accumulate in the endoplasmic reticulum. This accumulation likely damages and destroys cells in many different tissues, leading to poor coordination, muscle weakness, and the other features of Marinesco-Sjögren syndrome.