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This gene encodes component E2 of the multi-enzyme pyruvate dehydrogenase complex (PDC). PDC resides in the inner mitochondrial membrane and catalyzes the conversion of pyruvate to acetyl coenzyme A. The protein product of this gene, dihydrolipoamide acetyltransferase, accepts acetyl groups formed by the oxidative decarboxylation of pyruvate and transfers them to coenzyme A. Dihydrolipoamide acetyltransferase is the 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 enventually leads to cirrhosis and liver failure. Mutations in this gene are also a cause of pyruvate dehydrogenase E2 deficiency which causes primary lactic acidosis in infancy and early childhood.[provided by RefSeq, Oct 2009]
[中文简述(自动翻译):]  该基因编码的多酶丙酮酸脱氢酶复合体(PDC)的E2组分。 PDC驻留在线粒体内膜和催化丙酮酸转化为乙酰辅酶A.这个基因,二氢硫辛酰胺乙酰转移酶的蛋白质产物,接受由丙酮酸并将它们传送到辅酶A.二氢硫乙酰转移酶氧化脱羧形成乙酰基是抗原为抗线粒体抗体。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 enventually导致肝硬化和肝功能衰竭。在这个基因的突变也丙酮酸脱氢酶缺乏E2的原因导致主乳酸性酸中毒在婴儿期和幼儿期。[由RefSeq的,2009年10月提供]
DLAT基因(以及对应的蛋白质)的细胞分布位置:
DLAT基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Pyruvate Dehydrogenase E2 Deficiency | 0.36 | 0 | 0 | CLINVAR_CTD_human_ORPHANET |
Myocardial Ischemia | 0.12 | 1 | 0 | CTD_human |
Sleep Deprivation | 0.08 | 1 | 0 | RGD |
Primary biliary cirrhosis | 0.009771907 | 36 | 0 | BeFree |
Biliary cirrhosis | 0.0054487 | 2 | 0 | LHGDN |
Chorioamnionitis | 0.002367032 | 1 | 0 | GAD |
Fetal Membranes, Premature Rupture | 0.002367032 | 1 | 0 | GAD |
Premature Obstetric Labor | 0.002367032 | 1 | 0 | GAD |
Pre-Eclampsia | 0.002367032 | 1 | 0 | GAD |
Premature Birth | 0.002367032 | 1 | 0 | GAD |
Infection of amniotic sac and membranes, unspecified, unspecified trimester, not applicable or unspecified | 0.002367032 | 1 | 0 | GAD |
Autoimmune Diseases | 0.000542884 | 2 | 0 | BeFree |
Hepatitis, Autoimmune | 0.000542884 | 2 | 0 | BeFree |
Overlap syndrome | 0.000542884 | 2 | 0 | BeFree |
Arthritis, Psoriatic | 0.000271442 | 1 | 0 | BeFree |
Cholangitis | 0.000271442 | 1 | 0 | BeFree |
Fatty Liver | 0.000271442 | 1 | 0 | BeFree |
Gall Bladder Diseases | 0.000271442 | 1 | 0 | BeFree |
Globus Hystericus | 0.000271442 | 1 | 0 | BeFree |
Graft-vs-Host Disease | 0.000271442 | 1 | 0 | BeFree |
Hepatitis | 0.000271442 | 1 | 0 | BeFree |
Hepatitis A | 0.000271442 | 1 | 0 | BeFree |
Leukemia, Myelocytic, Acute | 0.000271442 | 1 | 0 | BeFree |
Lupus Vulgaris | 0.000271442 | 1 | 0 | BeFree |
Lupus Erythematosus, Discoid | 0.000271442 | 1 | 0 | BeFree |
Lupus Erythematosus, Systemic | 0.000271442 | 1 | 0 | BeFree |
Obesity | 0.000271442 | 1 | 0 | BeFree |
Pyruvate Dehydrogenase Complex Deficiency Disease | 0.000271442 | 1 | 0 | BeFree |
Systemic Scleroderma | 0.000271442 | 1 | 0 | BeFree |
Ankylosing spondylitis | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of mouth | 0.000271442 | 1 | 0 | BeFree |
Lip and Oral Cavity Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Neoplasm, Residual | 0.000271442 | 1 | 0 | BeFree |
Chronic viral hepatitis | 0.000271442 | 1 | 0 | BeFree |
Carcinoma breast stage IV | 0.000271442 | 1 | 0 | BeFree |
Lupus Erythematosus | 0.000271442 | 1 | 0 | BeFree |
Chronic active hepatitis | 0.000271442 | 1 | 0 | BeFree |
Primary sclerosing cholangitis | 0.000271442 | 1 | 0 | BeFree |
Bile duct carcinoma | 0.000271442 | 1 | 0 | BeFree |
liver disease parenchymal | 0.000271442 | 1 | 0 | BeFree |
Chronic lung disease | 0.000271442 | 1 | 0 | BeFree |
Enzyme inhibition disorder | 0.000271442 | 1 | 0 | BeFree |
MULTICYSTIC RENAL DYSPLASIA, BILATERAL | 0.000271442 | 1 | 0 | BeFree |
Steatohepatitis | 0.000271442 | 1 | 0 | BeFree |
Biliary System Disorder | 0.000271442 | 1 | 0 | BeFree |
Autoimmune polyendocrinopathy syndrome, type 1 | 0.000271442 | 1 | 0 | BeFree |
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