更多...
收起
The pyruvate dehydrogenase (PDH) complex is located in the mitochondrial matrix and catalyzes the conversion of pyruvate to acetyl coenzyme A. The PDH complex thereby links glycolysis to Krebs cycle. The PDH complex contains three catalytic subunits, E1, E2, and E3, two regulatory subunits, E1 kinase and E1 phosphatase, and a non-catalytic subunit, E3 binding protein (E3BP). This gene encodes the E3 binding protein subunit; also known as component X of the pyruvate dehydrogenase complex. This protein tethers E3 dimers to the E2 core of the PDH complex. Defects in this gene are a cause of pyruvate dehydrogenase deficiency which results in neurological dysfunction and lactic acidosis in infancy and early childhood. This protein is also a minor antigen for antimitochondrial antibodies. These autoantibodies are present in nearly 95% of patients with the autoimmune liver disease primary biliary cirrhosis (PBC). In PBC, activated T lymphocytes attack and destroy epithelial cells in the bile duct where this protein is abnormally distributed and overexpressed. PBC eventually leads to cirrhosis and liver failure. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Oct 2009]
[中文简述(自动翻译):]  的丙酮酸脱氢酶(PDH)复合物位于线粒体基质和催化丙酮酸转化为乙酰辅酶A的PDH复合物从而链接糖酵解克雷布斯循环。 PDH复合物包含三个催化亚基,E1,E2和E3,两个调节亚基,E1激酶和E1磷酸酶,和一个非催化亚基,E3结合蛋白(E3BP)。这个基因编码的E3结合蛋白亚基;也被称为丙酮酸脱氢酶复合物的成分X。这种蛋白系绳E3二聚体对PDH复合物的E2核心。在该基因缺陷丙酮酸脱氢酶缺乏导致的神经功能障碍和在婴儿和幼儿乳酸性酸中毒的原因。这种蛋白也是抗线粒体抗体次要抗原。这些自身抗体存在于近95%的患者的自身免疫性肝病原发性胆汁性肝硬化(PBC)。在中国人民银行,激活的T淋巴细胞的攻击和摧毁在胆管上皮细胞的地方这种蛋白质异常分布与过度表达。 PBC最终导致肝硬化和肝功能衰竭。在多个转录剪接变异体导致不同的编码亚型。[由RefSeq的,2009年10月提供]
PDHX基因(以及对应的蛋白质)的细胞分布位置:
PDHX基因的本体(GO)信息:
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Pyruvate Dehydrogenase E3-Binding Protein Deficiency | 0.36 | 0 | 6 | CLINVAR_CTD_human_ORPHANET |
| IGA Glomerulonephritis | 0.12 | 1 | 0 | CTD_human |
| Intellectual Disability | 0.12 | 1 | 0 | CTD_human |
| Diabetes Mellitus, Non-Insulin-Dependent | 0.009815515 | 13 | 1 | BeFree_GAD |
| Myocardial Infarction | 0.004734064 | 2 | 0 | GAD |
| Diabetes Mellitus | 0.004071628 | 15 | 0 | BeFree |
| Diabetes | 0.003257302 | 12 | 0 | BeFree |
| Pancreatic carcinoma | 0.003257302 | 12 | 0 | BeFree |
| Malignant neoplasm of pancreas | 0.003257302 | 12 | 0 | BeFree |
| Biliary cirrhosis | 0.00272435 | 1 | 0 | LHGDN |
| Pancreatic Ductal Adenocarcinoma | 0.002714419 | 10 | 1 | BeFree |
| Hyperglycemia | 0.001628651 | 6 | 0 | BeFree |
| Diabetes Mellitus, Insulin-Dependent | 0.001085767 | 4 | 0 | BeFree |
| Pyruvate Dehydrogenase Complex Deficiency Disease | 0.001085767 | 4 | 0 | BeFree |
| Impaired glucose tolerance | 0.001085767 | 4 | 0 | BeFree |
| Maturity onset diabetes mellitus in young | 0.001085767 | 4 | 0 | BeFree |
| Pancreatic intraepithelial neoplasia | 0.001085767 | 4 | 0 | BeFree |
| Primary biliary cirrhosis | 0.000814326 | 3 | 0 | BeFree |
| Neonatal diabetes mellitus | 0.000814326 | 3 | 0 | BeFree |
| insulinoma | 0.000542884 | 2 | 0 | BeFree |
| Lupus Erythematosus, Systemic | 0.000542884 | 2 | 0 | BeFree |
| Malignant neoplasm of stomach | 0.000542884 | 2 | 0 | BeFree |
| Neoplasm Metastasis | 0.000542884 | 2 | 0 | BeFree |
| Pancreatitis, Chronic | 0.000542884 | 2 | 0 | BeFree |
| Adenocarcinoma of pancreas | 0.000542884 | 2 | 0 | BeFree |
| Carcinogenesis | 0.000542884 | 2 | 0 | BeFree |
| Stomach Carcinoma | 0.000542884 | 2 | 0 | BeFree |
| Intraepithelial Neoplasia | 0.000542884 | 2 | 0 | BeFree |
| MATURITY-ONSET DIABETES OF THE YOUNG, TYPE IV (disorder) | 0.000542884 | 2 | 0 | BeFree |
| Acidosis, Lactic | 0.000271442 | 1 | 0 | BeFree |
| Fibrosarcoma | 0.000271442 | 1 | 0 | BeFree |
| polyps | 0.000271442 | 1 | 0 | BeFree |
| Encephalopathies | 0.000271442 | 1 | 0 | BeFree |
| Chronic gastritis | 0.000271442 | 1 | 0 | BeFree |
| Cholangiocarcinoma | 0.000271442 | 1 | 0 | BeFree |
| Exocrine pancreatic insufficiency | 0.000271442 | 1 | 0 | BeFree |
| Hyperplastic Polyp | 0.000271442 | 1 | 0 | BeFree |
| Juvenile polyposis syndrome | 0.000271442 | 1 | 0 | BeFree |
| Developmental delay (disorder) | 0.000271442 | 1 | 0 | BeFree |
| Metabolic Syndrome X | 0.000271442 | 1 | 0 | BeFree |
| Epithelial ovarian cancer | 0.000271442 | 1 | 0 | BeFree |
| precancerous lesions | 0.000271442 | 1 | 0 | BeFree |
忘记密码? 点击找回密码.
扫一扫右方二维码,关注微信订阅号,实时查看信息,关注医学生物学动态。