Gene Detail

Contact

Missing content? – Request curation!

Request curation for specific Genes, variants, or PubMed publications.

Have questions, comments or suggestions? - Let us know!

Email us at : ckbsupport@jax.org

Gene Symbol RASA1
Synonyms CM-AVM | CMAVM | CMAVM1 | GAP | p120 | p120GAP | p120RASGAP | PKWS | RASA | RASGAP
Gene Description RASA1, RAS p21 protein activator 1, is a RAS GTP activating protein (RasGAP), which promotes RAS GTP hydrolysis to negatively regulate RAS pathway signaling, and plays a role in cell proliferation, migration, and apoptosis and in angiogenesis (PMID: 19022332, PMID: 29127119). RASA1 co-mutation with NF1 has been identified in non-small cell lung cancer (PMID: 29127119), and decreased RASA1 expression and RASA1 mutations have been observed in metastatic melanoma (PMID: 26993606).


Additional content available in CKB BOOST