ALS2
Chr 2ARalsin Rho guanine nucleotide exchange factor ALS2
Also known as: ALS2CR6, ALSJ, IAHSP, PLSJ
The protein functions as a guanine nucleotide exchange factor for the small GTPase RAB5, localizing to early endosomal compartments where it modulates endosomal dynamics. Mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis, juvenile primary lateral sclerosis, and infantile-onset ascending spastic paralysis. The pathogenic mechanism involves disruption of endosomal trafficking through impaired RAB5 activation.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ALS2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools