Structural highlights
Disease
[RIT1_HUMAN] Noonan syndrome. The disease is caused by mutations affecting the gene represented in this entry.
Function
[RIT1_HUMAN] Plays a crucial role in coupling NGF stimulation to the activation of both EPHB2 and MAPK14 signaling pathways and in NGF-dependent neuronal differentiation. Involved in ELK1 transactivation through the Ras-MAPK signaling cascade that mediates a wide variety of cellular functions, including cell proliferation, survival, and differentiation.[1] [2]
References
- ↑ Shi GX, Andres DA. Rit contributes to nerve growth factor-induced neuronal differentiation via activation of B-Raf-extracellular signal-regulated kinase and p38 mitogen-activated protein kinase cascades. Mol Cell Biol. 2005 Jan;25(2):830-46. PMID:15632082 doi:http://dx.doi.org/10.1128/MCB.25.2.830-846.2005
- ↑ Aoki Y, Niihori T, Banjo T, Okamoto N, Mizuno S, Kurosawa K, Ogata T, Takada F, Yano M, Ando T, Hoshika T, Barnett C, Ohashi H, Kawame H, Hasegawa T, Okutani T, Nagashima T, Hasegawa S, Funayama R, Nagashima T, Nakayama K, Inoue S, Watanabe Y, Ogura T, Matsubara Y. Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome. Am J Hum Genet. 2013 Jul 11;93(1):173-80. doi: 10.1016/j.ajhg.2013.05.021. Epub, 2013 Jun 20. PMID:23791108 doi:http://dx.doi.org/10.1016/j.ajhg.2013.05.021
