PCK1基因编码的功能和结构描述
该基因是调节糖异生的主要控制点。由该基因编码的胞浆酶与GTP一起，催化草酰乙酸生成磷酸烯醇丙酮酸，并释放二氧化碳和GDP。该基因的表达可由胰岛素、糖皮质激素、胰高血糖素、环腺苷酸和饮食调节。这个基因的缺陷是导致胞浆磷酸烯醇丙酮酸羧激酶缺乏的原因。编码蛋白的线粒体同工酶也已被鉴定。
This gene is a main control point for the regulation of gluconeogenesis. The cytosolic enzyme encoded by this gene, along with GTP, catalyzes the formation of phosphoenolpyruvate from oxaloacetate, with the release of carbon dioxide and GDP. The expression of this gene can be regulated by insulin, glucocorticoids, glucagon, cAMP, and diet. Defects in this gene are a cause of cytosolic phosphoenolpyruvate carboxykinase deficiency. A mitochondrial isozyme of the encoded protein also has been characterized.
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