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The pyruvate dehydrogenase (PDH) complex is a nuclear-encoded mitochondrial multienzyme complex that catalyzes the overall conversion of pyruvate to acetyl-CoA and carbon dioxide, and provides the primary link between glycolysis and the tricarboxylic acid (TCA) cycle. The PDH complex is composed of multiple copies of three enzymatic components: pyruvate dehydrogenase (E1), dihydrolipoamide acetyltransferase (E2) and lipoamide dehydrogenase (E3). The E1 enzyme is a heterotetramer of two alpha and two beta subunits. This gene encodes the E1 beta subunit. Mutations in this gene are associated with pyruvate dehydrogenase E1-beta deficiency. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2012]
[中文简述(自动翻译):]  的丙酮酸脱氢酶(PDH)复合物是核编码的线粒体多酶复合催化丙酮酸的总转化为乙酰-CoA和二氧化碳,并提供了糖酵解和三羧酸(TCA)循环之间的主要链路。 PDH复合物是由三个酶组分的多个拷贝:丙酮酸脱氢酶(E1),二氢硫辛酰胺乙酰转移酶(E2)和硫辛酰胺脱氢酶(E3)。将E1酶是两个α和两个β亚基的异四聚体。这个基因编码的E1β亚基。在这种基因突变与丙酮酸脱氢酶的E1-β缺乏有关。另外剪接转录变体也发现了这种基因。 [由RefSeq的,2012年3月提供]
PDHB基因(以及对应的蛋白质)的细胞分布位置:
PDHB基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Pyruvate Dehydrogenase E1-Beta Deficiency | 0.24 | 1 | 2 | ORPHANET_UNIPROT |
Pyruvate Dehydrogenase Complex Deficiency Disease | 0.120271442 | 2 | 0 | BeFree_CTD_human |
Renal Cell Carcinoma | 0.12 | 1 | 0 | CTD_human |
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