Aliases for ALS2 Gene
External Ids for ALS2 Gene
Previous Symbols 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 (Amyotrophic Lateral Sclerosis 2 (Juvenile)) is a Protein Coding gene. Diseases associated with ALS2 include infantile-onset ascending hereditary spastic paralysis and als2-related disorders. Among its related pathways are Amyotrophic lateral sclerosis (ALS) and Amyotrophic lateral sclerosis (ALS). GO annotations related to this gene include protein homodimerization activity and guanyl-nucleotide exchange factor activity. An important paralog of this gene is RSPH1.
UniProtKB/Swiss-Prot for ALS2 Gene
May act as a GTPase regulator. Controls survival and growth of spinal motoneurons (By similarity).