ALS2
ALS2
A gene on chromosome 2q33.1 that encodes a protein that functions as a guanine nucleotide exchange factor for the small GTPase RAB5; it localises with RAB5 on early endosomal compartments, and modulates endosomal dynamics.Molecular pathology
ALS2 mutations have been linked to forms of juvenile lateral sclerosis and infantile-onset ascending spastic paralysis.