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 (Amyotrophic Lateral Sclerosis 2 (Juvenile)) is a Protein Coding gene. Diseases associated with ALS2 include amyotrophic lateral sclerosis 2, juvenile and primary lateral sclerosis, juvenile. 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).