RASA1 : RAS p21 protein activator 1

Description

The RASA1 (RAS p21 protein activator 1) is a protein-coding gene located on chromosome 5.

The RASA1 gene directs the production of a protein called p120-RasGAP, which controls the RAS/MAPK signaling pathway. This pathway delivers signals from outside the cell to its nucleus, influencing vital cellular processes like growth, division, maturation, and movement. p120-RasGAP acts as a negative regulator of this pathway, essentially turning off the signals when they are not needed. While its precise function is not fully understood, it appears critical for the proper development of the vascular system, the network of blood vessels.

RASA1 protein acts as an inhibitory regulator of the Ras-cyclic AMP pathway. It boosts the GTPase activity of normal Ras p21, but not of its oncogenic counterparts. The presence of NCK1 protein enhances this stimulatory effect on GTPase activity.

RASA1 is also known as CM-AVM, CMAVM, CMAVM1, GAP, PKWS, RASA, RASGAP, p120, p120GAP, p120RASGAP.

Associated Diseases

WES Whole Exome Sequencing

Clinical Exome Sequencing