Legius syndrome is caused by a mutation (change) in the SPRED1 gene. This gene provides instructions for making a protein that helps regulate cell growth and development.
Understanding the Role of SPRED1
The SPRED1 gene plays a crucial role in the RAS/MAPK pathway, a signaling pathway that controls cell growth, differentiation, and survival. The SPRED1 protein acts as a negative regulator within this pathway.
How the Mutation Leads to Legius Syndrome
When the SPRED1 gene is mutated, the SPRED1 protein either functions improperly or is not produced at all. This disrupts the regulation of the RAS/MAPK pathway, leading to increased cell growth and potentially contributing to the features of Legius syndrome. In essence, the faulty SPRED1 gene means the "brakes" on cell growth aren't working correctly.
Key Points Summarized:
- Gene Mutation: A mutation in the SPRED1 gene is the root cause.
- Protein Function: This gene encodes a protein involved in cell growth regulation.
- RAS/MAPK Pathway: The SPRED1 protein is a key component of the RAS/MAPK signaling pathway.
- Dysregulation: The mutation leads to dysregulation of cell growth and development.
