ATG4A
Chr Xautophagy related 4A cysteine peptidase
Also known as: APG4A, AUTL2, HsAPG4A
ATG4A encodes a cysteine protease that processes ATG8 family proteins for autophagy by cleaving their C-terminus and removing them from membranes, and also regulates mitochondrial autophagy through ATG9A trafficking. Mutations cause autosomal recessive spastic paraplegia with early childhood onset, characterized by progressive spasticity and intellectual disability. This gene is highly constrained against loss-of-function variants (pLI = 0.99, LOEUF = 0.26), indicating intolerance to protein-truncating mutations.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ATG4A · 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