Figure 1 Overview of the RAS-MAPK pathway and associated disorders. Binding of a growth factor to a receptor tyrosine kinase (RTK) activates RAS proteins by the action of guanosine nucleotide exchange factors (GEFs) such as SOS which catalyse guanosine nucleotide exchange. RAS-GTP activates RAF and downstream effectors. Signalling is terminated when RAS-GTP is hydrolysed to RAS-GDP either by the action of GAPs neurofibromin or p120 GAP. Responsible proteins for autoimmune lymphoproliferative syndrome (ALPS), capillary malformation-arteriovenous malformation (CM-AVM), neurofibromatosis type 1 (NF1), Costello, Noonan, LEOPARD, cardiofaciocutaneous (CFC) and NF1-like syndrome are indicated.
Vol 60 Issue 10
Table of Contents
Share this article
Click the icon of the social media platform on which you would like to share this article.
Email this article to a friend
Respond to this article