SOS1
SOS1 (Son of Sevenless Homolog 1) is a gene that encodes a protein known to play a crucial role in the regulation of cell growth and cell differentiation. This gene is part of the RAS/MAPK pathway, which is involved in transmitting signals from the cell surface to the DNA in the cell nucleus.
Function[edit | edit source]
The SOS1 gene provides instructions for making a protein that is involved in regulating cell growth and differentiation. This protein is a guanine nucleotide exchange factor (GEF), which activates a protein called RAS. The activated RAS protein triggers a series of chemical reactions inside cells (a pathway) that instructs cells to grow, divide, and mature to take on specialized functions (differentiate).
Clinical significance[edit | edit source]
Mutations in the SOS1 gene are associated with several medical conditions. These include Noonan syndrome, a disorder that causes abnormal development of multiple parts of the body, and hereditary gingival fibromatosis, a condition characterized by an overgrowth of the gums.
See also[edit | edit source]
References[edit | edit source]
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Contributors: Prab R. Tumpati, MD
