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G6PC1

—Glucose-6-Phosphatase Catalytic Subunit 1

Chromosome: 17

Location: 17:42900722-42923502

OMIM: 613742

Ensembl: ENSG00000131482

Official·OMIM:613742 Official·ENSG00000131482

Encodes glucose-6-phosphatase enzyme. Mutations cause glycogen storage disease type Ia.

Treatment Roadmap — G6PC1

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

Glycogen Storage Disease Type Ia (Von Gierke)

Autosomal RecessivePrevalence: 1/100000metabolic

Official·OMIM:232200 Official·ORPHA364

Summary

Clinical Trial

Approved Therapy

Registered Variant