Also known as ALS2CR6, ALSJ, IAHSP, PLSJ, ALS2, alsin Rho guanine nucleotide exchange factor, alsin Rho guanine nucleotide exchange factor ALS2
Alsin is a protein that in humans is encoded by the ALS2 gene. ALS2 orthologs have been identified in all mammals for which complete genome data are available.
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].
Biological process
Alsin is a protein that in humans is encoded by the ALS2 gene. ALS2 orthologs have been identified in all mammals for which complete genome data are available.
==See also== Juvenile primary lateral sclerosis Amyotrophic lateral sclerosis
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Cellular component
via MyGene.info
Discovered by embedding cosine similarity (sentence-transformers MiniLM, 384-dim).