PPT1
Chr 1ARpalmitoyl-protein thioesterase 1
Also known as: CLN1, INCL, PPT
The protein removes thioester-linked fatty acyl groups from cysteine residues during lysosomal degradation of lipid-modified proteins. Mutations cause neuronal ceroid lipofuscinosis 1 (CLN1), also known as infantile neuronal ceroid lipofuscinosis, inherited in an autosomal recessive pattern. Disease results from loss of enzyme function leading to accumulation of lipofuscin-like material in lysosomes.
Definitive — sufficient evidence for diagnostic panels
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
PPT1 · 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