Aliases for ALS2 Gene
External Ids for ALS2 Gene
Previous HGNC Symbols for ALS2 Gene
Previous GeneCards Identifiers for ALS2 Gene
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]
GeneCards Summary for ALS2 Gene
ALS2 (Alsin Rho Guanine Nucleotide Exchange Factor ALS2) is a Protein Coding gene. Diseases associated with ALS2 include Primary Lateral Sclerosis, Juvenile and Spastic Paralysis, Infantile-Onset Ascending. Among its related pathways are Pathways of neurodegeneration - multiple diseases and Vesicle-mediated transport. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and Rab GTPase binding. An important paralog of this gene is HERC1.
UniProtKB/Swiss-Prot Summary for ALS2 Gene
May act as a GTPase regulator. Controls survival and growth of spinal motoneurons (By similarity).