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NPC1

—NPC Intracellular Cholesterol Transporter 1

Chromosome: 18

Location: 18:23506184-23586969

OMIM: 607623

Ensembl: ENSG00000141458

Official·OMIM:607623 Official·ENSG00000141458

Encodes cholesterol transport protein. Mutations cause Niemann-Pick type C1.

Treatment Roadmap — NPC1

Preclinical

Phase 1

Phase 2

1 trial

Phase 3

Approved

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

Associated Diseases

Niemann-Pick Disease Type C

Autosomal RecessivePrevalence: 1/150000lysosomal

Official·OMIM:257220 Official·ORPHA646

Summary

Clinical Trial

Approved Therapy

Registered Variant