1m51

PEPCK complex with a GTP-competitive inhibitorPEPCK complex with a GTP-competitive inhibitor

DiseaseDisease

[PCKGC_HUMAN] Defects in PCK1 are the cause of cytosolic phosphoenolpyruvate carboxykinase deficiency (C-PEPCKD) [MIM:261680]. A metabolic disorder resulting from impaired gluconeogenesis. It is a rare disease with less than 10 cases reported in the literature. Clinical characteristics include hypotonia, hepatomegaly, failure to thrive, lactic acidosis and hypoglycemia. Autoposy reveals fatty infiltration of both the liver and kidneys. The disorder is transmitted as an autosomal recessive trait.

FunctionFunction

[PCKGC_HUMAN] Catalyzes the conversion of oxaloacetate (OAA) to phosphoenolpyruvate (PEP), the rate-limiting step in the metabolic pathway that produces glucose from lactate and other precursors derived from the citric acid cycle.

About this StructureAbout this Structure

1m51 is a 1 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.

ReferenceReference

^{[xtra 1]}

↑ Foley LH, Wang P, Dunten P, Ramsey G, Gubler ML, Wertheimer SJ. X-ray structures of two xanthine inhibitors bound to PEPCK and N-3 modifications of substituted 1,8-dibenzylxanthines. Bioorg Med Chem Lett. 2003 Nov 3;13(21):3871-4. PMID:14552798

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OCA

[1] Foley LH, Wang P, Dunten P, Ramsey G, Gubler ML, Wertheimer SJ. X-ray structures of two xanthine inhibitors bound to PEPCK and N-3 modifications of substituted 1,8-dibenzylxanthines. Bioorg Med Chem Lett. 2003 Nov 3;13(21):3871-4. PMID:14552798

[xtra 1]