ATXN7L1
Chr 7ataxin 7 like 1
Also known as: ATXN7L4
The protein is a component of the SAGA (Spt-Ada-Gcn5-acetyltransferase) transcriptional coactivator complex, functioning as a histone deubiquitinase that regulates gene expression through chromatin modification. Mutations cause cone-rod dystrophy with hearing loss, an autosomal recessive disorder affecting retinal photoreceptors and auditory function. This gene is highly constrained against loss-of-function variants, indicating that even single functional copies are insufficient for normal development.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Moderately missense-constrained (top ~2.5%)
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ATXN7L1 · 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