RASA1 gene
The RASA1 gene regulates the RAS/MAPK signaling pathway, and its dysfunction is linked to vascular malformations and certain skin cancers.
Normal Function
The RASA1 gene provides instructions for making a protein called p120-RasGAP. This protein helps regulate the RAS/MAPK signaling pathway, which transmits signals from outside the cell to the cell's nucleus. This pathway directs important cell functions, including growth, division (proliferation), maturation (differentiation), and movement.
The p120-RasGAP protein acts as a negative regulator, turning off these signals when they are not needed. It appears to be essential for the normal development of the vascular system, the network of arteries, veins, and capillaries that carry blood.
Health Conditions Related to Genetic Changes
Capillary malformation-arteriovenous malformation syndrome
Several dozen mutations in the RASA1 gene cause capillary malformation-arteriovenous malformation syndrome (CM-AVM), a condition characterized by vascular system abnormalities. Most mutations prevent the production of functional p120-RasGAP protein.
Parkes Weber syndrome
Mutations in the RASA1 gene have been identified in people with Parkes Weber syndrome. Affected individuals typically have multiple capillary malformations, other vascular system abnormalities, and overgrowth of one limb, most commonly a leg.
Cancers
At least three somatic mutations in the RASA1 gene have been detected in basal cell carcinoma, a form of skin cancer. Researchers suspect these mutations lead to a loss of p120-RasGAP function, potentially allowing uncontrolled RAS/MAPK signaling and unregulated cell proliferation.
Other Names for This Gene
- DKFZp434N071
- GAP
- GTPase-activating protein
- p120
- p120GAP
- p120RASGAP
- ras GTPase-activating protein 1
- RAS p21 protein activator (GTPase activating protein) 1
- RASA
- RASA1_HUMAN
- RASGAP
- triphosphatase-activating protein
Genomic Location
The RASA1 gene is found on chromosome 5.