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.

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