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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] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |