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Pyruvate dehydrogenase (PDH) is a mitochondrial multienzyme complex that catalyzes the oxidative decarboxylation of pyruvate and is one of the major enzymes responsible for the regulation of homeostasis of carbohydrate fuels in mammals. The enzymatic activity is regulated by a phosphorylation/dephosphorylation cycle. Phosphorylation of PDH by a specific pyruvate dehydrogenase kinase (PDK) results in inactivation. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2013]
[中文简述(自动翻译):]  丙酮酸脱氢酶(PDH)是线粒体多酶复合物,催化丙酮酸氧化脱羧,并负责碳水化合物燃料动态平衡哺乳动物中调节主要酶之一。酶活性是通过磷酸化/去磷酸化周期调节。由一个特定的丙酮酸脱氢酶激酶(PDK)导致失活的PDH的磷酸化。多重选择性剪接转录变异体也发现了这种基因。 [由RefSeq的,2013年6月提供]
PDK1基因(以及对应的蛋白质)的细胞分布位置:
PDK1基因的本体(GO)信息:
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Altitude Sickness | 0.00272435 | 1 | 0 | LHGDN |
| Colonic Neoplasms | 0.002367032 | 1 | 0 | GAD |
| Diabetes Mellitus, Non-Insulin-Dependent | 0.002367032 | 1 | 0 | GAD |
| Rectal Neoplasms | 0.002367032 | 1 | 0 | GAD |
| Carcinogenesis | 0.001628651 | 6 | 0 | BeFree |
| melanoma | 0.001357209 | 5 | 0 | BeFree |
| Malignant neoplasm of breast | 0.000814326 | 3 | 0 | BeFree |
| leukemia | 0.000814326 | 3 | 0 | BeFree |
| Leukemia, Myelocytic, Acute | 0.000814326 | 3 | 0 | BeFree |
| Breast Carcinoma | 0.000814326 | 3 | 0 | BeFree |
| Rectal Carcinoma | 0.000542884 | 2 | 0 | BeFree |
| Non-Small Cell Lung Carcinoma | 0.000542884 | 2 | 0 | BeFree |
| Esophageal Neoplasms | 0.000542884 | 2 | 0 | BeFree |
| HIV Infections | 0.000542884 | 2 | 0 | BeFree |
| Neoplasm Metastasis | 0.000542884 | 2 | 0 | BeFree |
| Esophageal carcinoma | 0.000542884 | 2 | 0 | BeFree |
| Tumor Progression | 0.000542884 | 2 | 0 | BeFree |
| Pancreatic carcinoma | 0.000542884 | 2 | 0 | BeFree |
| Malignant neoplasm of lung | 0.000542884 | 2 | 1 | BeFree |
| Malignant neoplasm of esophagus | 0.000542884 | 2 | 0 | BeFree |
| Carcinoma of lung | 0.000542884 | 2 | 1 | BeFree |
| Nasopharyngeal carcinoma | 0.000542884 | 2 | 0 | BeFree |
| Adenocarcinoma of prostate | 0.000271442 | 1 | 0 | BeFree |
| Malignant neoplasm of thyroid | 0.000271442 | 1 | 0 | BeFree |
| Renal Cell Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Cardiomyopathy, Dilated | 0.000271442 | 1 | 0 | BeFree |
| Colorectal Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Cystic Fibrosis | 0.000271442 | 1 | 0 | BeFree |
| Exanthema | 0.000271442 | 1 | 0 | BeFree |
| Glioblastoma | 0.000271442 | 1 | 0 | BeFree |
| Heart failure | 0.000271442 | 1 | 0 | BeFree |
| Congestive heart failure | 0.000271442 | 1 | 0 | BeFree |
| Acute myelomonocytic leukemia | 0.000271442 | 1 | 0 | BeFree |
| Malignant neoplasm of stomach | 0.000271442 | 1 | 0 | BeFree |
| Multiple Myeloma | 0.000271442 | 1 | 0 | BeFree |
| Obesity | 0.000271442 | 1 | 0 | BeFree |
| Rothmund-Thomson syndrome | 0.000271442 | 1 | 0 | BeFree |
| Rett Syndrome | 0.000271442 | 1 | 0 | BeFree |
| Cutaneous Melanoma | 0.000271442 | 1 | 0 | BeFree |
| Malignant neoplasm of mouth | 0.000271442 | 1 | 0 | BeFree |
| Lip and Oral Cavity Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Memory impairment | 0.000271442 | 1 | 0 | BeFree |
| Squamous cell carcinoma of esophagus | 0.000271442 | 1 | 0 | BeFree |
| Microvillus inclusion disease | 0.000271442 | 1 | 0 | BeFree |
| Malignant neoplasm of pancreas | 0.000271442 | 1 | 0 | BeFree |
| Malignant neoplasm of prostate | 0.000271442 | 1 | 0 | BeFree |
| Thyroid carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Prostate carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Stomach Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Spots on skin | 0.000271442 | 1 | 0 | BeFree |
| Mammary Neoplasms | 0.000271442 | 1 | 0 | BeFree |
| Colorectal Cancer | 0.000271442 | 1 | 0 | BeFree |
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