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ASS1

—Argininosuccinate Synthase 1

Chromosome: 9

Location: 9:130443282-130502361

OMIM: 603470

Ensembl: ENSG00000130707

Official·OMIM:603470 Official·ENSG00000130707

Encodes argininosuccinate synthase. Mutations cause citrullinemia.

Treatment Roadmap — ASS1

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

Citrullinemia Type 1

Autosomal RecessivePrevalence: 1/60000metabolic

Official·OMIM:215700 Official·ORPHA1165

Summary

Clinical Trial

Approved Therapy

Registered Variant