ALS2, Official Symbol ALS2provided by HGNC Official Full Name alsin Rho guanine nucleotide exchange factor ALS2provided by HGNC Primary source HGNC:HGNC:443 See related Ensembl:ENSG00000003393 MIM:606352; AllianceGenome:HGNC:443 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ALSJ; PLSJ; IAHSP; ALS2CR6 Summary 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] Expression Ubiquitous expression in heart (RPKM 4.3), brain (RPKM 3.7) and 25 other tissues See more Orthologs mouse all