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Improved Propionyl-CoA Carboxylase Alpha (PCCA) Alleles in Mouse Models for the Study of Propionic Acidemia (PA) and its Potential Treatments

Propionic acidemia (PA) is an autosomal recessive metabolic disorder caused by mutations in either PCCA or PCCB. The products of these genes form the alpha and beta subunits of the enzyme propionyl-Co A carboxylase (PCC), a critically important mitochondrial enzyme involved in the catabolism of branched chain amino acids. NHGRI scientist have developed...

Published: 7/25/2024 | Inventor(s): Stephanie Smith, Randy Chandler, Charles Venditti

Keywords(s): Acidemia, ALLELES, ALPHA, Carboxylase, Improved, PA, Pcca, Propionic, Propionyl-CoA, VPXXXX, WIXXXX

Category(s): TherapeuticArea > Oncology, TherapeuticArea > Cardiology, TherapeuticArea > Infectious Disease, TherapeuticArea > Ophthalmology, TherapeuticArea > Endocrinology, TherapeuticArea > Dental, Application > Research Materials