VCY1B
The VCY1B Gene: An Insight into Its Function and Significance
Description of VCY1B Gene
VCY1B (Vaccinia virus complement control protein 1B) is a human gene located on chromosome 7q22.1. It encodes a protein that plays a crucial role in regulating the complement system, a complex network of proteins involved in the body's immune response to infection. The VCY1B protein acts as a complement control protein, helping to prevent excessive activation of the complement system and protect the body from tissue damage.
Associated Diseases
Mutations in the VCY1B gene have been linked to a rare genetic condition called hemolytic uremic syndrome (HUS). HUS is characterized by the destruction of red blood cells, low platelet count, and kidney failure. VCY1B mutations are thought to impair the function of the VCY1B protein, leading to uncontrolled activation of the complement system and damage to blood cells and kidneys.
Did you Know ?
According to the National Institutes of Health (NIH), hemolytic uremic syndrome (HUS) affects approximately 1 in 50,000 children worldwide. Mutations in the VCY1B gene account for about 10% of cases of HUS.
