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GNPTAB

—GlcNAc-1-Phosphotransferase Subunits Alpha And Beta

Chromosome: 12

Location: 12:101744032-101830984

OMIM: 607840

Ensembl: ENSG00000111670

Official·OMIM:607840 Official·ENSG00000111670

Encodes GlcNAc-1-phosphotransferase subunits. Mutations cause mucolipidosis type II.

Treatment Roadmap — GNPTAB

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

Mucolipidosis Type II (I-Cell Disease)

Autosomal RecessivePrevalence: 1/600000lysosomal

Official·OMIM:252500 Official·ORPHA576

Summary

Clinical Trial

Approved Therapy

Registered Variant