Structural highlights
Disease
KDIS_HUMAN Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome. The disease is caused by variants affecting the gene represented in this entry. The disease is caused by variants affecting the gene represented in this entry.
Function
KDIS_HUMAN Promotes a prolonged MAP-kinase signaling by neurotrophins through activation of a Rap1-dependent mechanism. Provides a docking site for the CRKL-C3G complex, resulting in Rap1-dependent sustained ERK activation. May play an important role in regulating postsynaptic signal transduction through the syntrophin-mediated localization of receptor tyrosine kinases such as EPHA4. In cooperation with SNTA1 can enhance EPHA4-induced JAK/STAT activation. Plays a role in nerve growth factor (NGF)-induced recruitment of RAPGEF2 to late endosomes and neurite outgrowth. May play a role in neurotrophin- and ephrin-mediated neuronal outgrowth and in axon guidance during neural development and in neuronal regeneration (By similarity). Modulates stress-induced apoptosis of melanoma cells via regulation of the MEK/ERK signaling pathway.[1]
References
- ↑ Liao YH, Hsu SM, Huang PH. ARMS depletion facilitates UV irradiation induced apoptotic cell death in melanoma. Cancer Res. 2007 Dec 15;67(24):11547-56. PMID:18089783 doi:10.1158/0008-5472.CAN-07-1930
