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PPT1

—Palmitoyl-Protein Thioesterase 1

Chromosome: 1

Location: 1:40072710-40097267

OMIM: 600722

Ensembl: ENSG00000131238

Official·OMIM:600722 Official·ENSG00000131238

Encodes palmitoyl-protein thioesterase 1 enzyme. Mutations cause CLN1 (Batten) disease.

Treatment Roadmap — PPT1

Preclinical

Phase 1

Phase 2

Phase 3

Approved

Clinical trials have approximately 10% success rate. This roadmap shows the current status, not guaranteed outcomes.

Associated Diseases

Neuronal Ceroid Lipofuscinosis Type 1

Autosomal RecessivePrevalence: 1/100000lysosomal

Official·OMIM:256730 Official·ORPHA228329

Summary

Clinical Trial

Approved Therapy

Registered Variant