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

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

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

• RAS/MAPK pathway
• Noonan syndrome
• Hereditary gingival fibromatosis

References

Template:Genes on human chromosome 2

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