GNAQ

Activating mutations in GNAQ coding for an alpha subunit of a G-protein leads to Sturge-Weber syndrome and port-wine stains. GNAQ is implicated in transmitting signals from receptors at the cell membrane to the MAPK pathway, which is implicated in cellular growth. An activating mutation would therefore increase the signaling down this pathway, which may lead to the capillary malformations seen in Sturge-Weber syndrome and port-wine stains.

Ingo Helbig

Child Neurology Fellow and epilepsy genetics researcher at the Children’s Hospital of Philadelphia (CHOP), USA and Department of Neuropediatrics, Kiel, Germany

Facebook Twitter 

Leave a Reply

Your email address will not be published. Required fields are marked *

This site uses Akismet to reduce spam. Learn how your comment data is processed.