ATG7
Chr 3ARautophagy related 7
Also known as: APG7-LIKE, APG7L, GSA7, SCAR31
ATG7 encodes an E1-like activating enzyme essential for autophagy, activating ATG12 and ATG8 family proteins for conjugation reactions required for autophagosome formation and cytoplasm-to-vacuole transport. Mutations cause spinocerebellar ataxia, autosomal recessive 31, which follows autosomal recessive inheritance. The gene is not highly constrained against loss-of-function variants and plays critical roles in axonal homeostasis and mitochondrial quality control.
Strong evidence — appropriate for clinical testing
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ATG7 · 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
External Resources
Links to major genomics databases and tools