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Entry Name Description Category Pathway Gene
H02520 Phosphoenolpyruvate carboxykinase deficiency ... discrete subcellular isoforms of phosphoenolpyruvate carboxykinase (PCK): cytosolic PCK (encoded by PCK1) and mitochondrial PCK (encoded by PCK2). Mutations in PCK1 have been detected in affected individuals. Inherited metabolic disorder (PCKDC) PCK1 [HSA:5105] [KO:K01596]
(PCKDM) PCK2 [HSA:5106] [KO:K01596]
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