TPP1
Chr 11ARtripeptidyl peptidase 1
Also known as: CLN2, GIG1, LPIC, SCAR7, TPP-1
This gene encodes a lysosomal serine protease that cleaves N-terminal tripeptides from substrates and degrades specific neuropeptides and ATP synthase subunits. Mutations cause late-infantile neuronal ceroid lipofuscinosis (CLN2) and autosomal recessive spinocerebellar ataxia type 7 through autosomal recessive inheritance. The pathogenic mechanism involves failure to degrade lysosomal substrates due to loss of protease function.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Tolerant to missense variation
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
TPP1 · 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
Examining Developmental Outcomes of Children Diagnosed With CLN2 Disease
ENROLLING BY INVITATIONNatural History and Longitudinal Clinical Assessments in NCL / Batten Disease, the International DEM-CHILD Database
RECRUITINGA First-in-Human, Open-Label, Dose-Escalation Study to Evaluate the Safety and Tolerability of Gene Therapy With TTX-381 for the Ocular Manifestations Associated With Neuronal Ceroid Lipofuscinosis Type 2 (CLN2) Disease
RECRUITINGExternal Resources
Links to major genomics databases and tools