PDC（Pyruvate Dehydrogenase Complex）是丙酮酸脱氢酶复合体的简称，属于线粒体多酶复合体家族，负责将糖酵解产生的丙酮酸转化为乙酰辅酶A，连接糖代谢与三羧酸循环（TCA循环）。该复合体由三种核心酶组成：E1（丙酮酸脱氢酶）、E2（二氢硫辛酰转乙酰酶）和E3（二氢硫辛酰脱氢酶），需要硫胺素焦磷酸（TPP）、硫辛酸、CoA、FAD和NAD+作为辅因子。PDC的功能直接影响细胞能量代谢，其活性受磷酸化（失活）和去磷酸化（激活）的精细调控，其中PDK（丙酮酸脱氢酶激酶）和PDP（丙酮酸脱氢酶磷酸酶）是关键调节因子。PDC基因突变可导致丙酮酸脱氢酶缺乏症，表现为乳酸酸中毒、神经退行性变和发育迟缓，尤其影响高能耗组织如大脑和肌肉。若PDC过表达，可能增强乙酰辅酶A供应，促进脂质合成或组蛋白乙酰化，但过度激活可能导致氧化应激；表达降低则使丙酮酸堆积，转向乳酸生成，引发代谢紊乱。PDC与糖尿病、癌症和神经疾病相关，例如肿瘤细胞可能通过抑制PDC活性维持糖酵解（Warburg效应）。该基因家族成员（如PDHA1、PDHB等）均参与能量代谢的酶复合体构建，共性为依赖多种辅因子并通过协同作用完成氧化脱羧反应。研究PDC对代谢疾病治疗和肿瘤靶向干预具有重要意义。

该基因编码磷蛋白，它位于在视网膜杆细胞外和内段。这种蛋白可能参与视觉光转导的调控或在感光体代谢的整合。它与视网膜G蛋白转导的β和γ亚基交互调制光转导级联。这个基因是视网膜色素变性和Usher综合征类型II的潜在候选基因。编码不同同种型的可变剪接转录物变体也已确定。 [由RefSeq的，2008年7月提供]

The Pyruvate Dehydrogenase Complex (PDC) is a critical mitochondrial multi-enzyme complex that serves as the metabolic bridge between glycolysis and the tricarboxylic acid (TCA) cycle by catalyzing the oxidative decarboxylation of pyruvate into acetyl-CoA. Comprising three core enzyme subunits—E1 (pyruvate dehydrogenase), E2 (dihydrolipoyl transacetylase), and E3 (dihydrolipoyl dehydrogenase)—the complex relies on a suite of essential cofactors, including thiamine pyrophosphate (TPP), lipoic acid, coenzyme A, FAD, and NAD+, to facilitate its catalytic activity. The functional output of PDC is tightly regulated by a phosphorylation-dephosphorylation cycle, where pyruvate dehydrogenase kinase (PDK) inactivates the complex and pyruvate dehydrogenase phosphatase (PDP) reactivates it, thereby modulating cellular energy flux in response to metabolic demands. Genetic mutations in PDC components, such as PDHA1 and PDHB, result in pyruvate dehydrogenase deficiency, a severe metabolic disorder characterized by lactic acidosis, neurodegeneration, and developmental delays, particularly affecting high-energy tissues like the brain and skeletal muscle. Conversely, dysregulated PDC expression has profound implications for disease pathogenesis; while overexpression can enhance acetyl-CoA supply for lipid synthesis and histone acetylation, it may also precipitate oxidative stress, whereas reduced activity leads to pyruvate accumulation and a shift toward lactate production. This metabolic flexibility is exploited in various pathologies, including diabetes and neurodegenerative diseases, and is central to the Warburg effect in cancer, where tumor cells often suppress PDC activity to sustain aerobic glycolysis. Consequently, understanding the intricate regulation and genetic variability of the PDC family offers significant insights for developing therapeutic strategies targeting metabolic disorders and oncological interventions.

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