{"symbol":"ALS2","synonyms":["ALSJ","ALS2CR6","IAHSP","PLSJ"],"name":"amyotrophic lateral sclerosis 2 (juvenile)","description":"The protein encoded by this gene contains an ATS1/RCC1-like domain, a RhoGEF domain, and a vacuolar protein sorting 9 (VPS9) domain, all of which are guanine-nucleotide exchange factors that activate members of the Ras superfamily of GTPases. The protein functions as a guanine nucleotide exchange factor for the small GTPase RAB5. The protein localizes with RAB5 on early endosomal compartments, and functions as a modulator for endosomal dynamics. Mutations in this gene result in several forms of juvenile lateral sclerosis and infantile-onset ascending spastic paralysis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]","ncbiEntrezGeneId":57679,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/57679","proteins":[{"symbol":"ALS2_HUMAN","href":"/api/1.0/protein/ALS2_HUMAN"}],"hgncRootFamilies":[{"name":"VPS9 domain containing","href":"/api/1.0/gene_family/VPS9+domain+containing"},{"name":"Rho guanine nucleotide exchange factors (ARHGEF)","href":"/api/1.0/gene_family/Rho+guanine+nucleotide+exchange+factors+%28ARHGEF%29"}]}