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ETFA participates in catalyzing the initial step of the mitochondrial fatty acid beta-oxidation. It shuttles electrons between primary flavoprotein dehydrogenases and the membrane-bound electron transfer flavoprotein ubiquinone oxidoreductase. Defects in electron-transfer-flavoprotein have been implicated in type II glutaricaciduria in which multiple acyl-CoA dehydrogenase deficiencies result in large excretion of glutaric, lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  ETFA参与催化线粒体脂肪酸β氧化的初始步骤。它穿梭主黄素蛋白脱氢酶和膜 - 结合的电子传递黄素蛋白泛醌氧化还原酶之间的电子。在电子转移黄素蛋白缺陷有牵连II型glutaricaciduria其中多个酰基辅酶A脱氢酶缺乏导致大的排泄戊二酸,乳酸,乙基丙,丁酸,异丁酸,2-甲基丁酸和异戊酸的。已发现该基因编码不同亚型的两个转录变异体。 [由RefSeq的,2008年7月提供]
ETFA基因(以及对应的蛋白质)的细胞分布位置:
ETFA基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Multiple Acyl Coenzyme A Dehydrogenase Deficiency | 0.241357209 | 7 | 0 | BeFree_CTD_human_UNIPROT |
Degenerative polyarthritis | 0.12 | 1 | 0 | CTD_human |
Liver carcinoma | 0.12 | 1 | 0 | CTD_human |
GLUTARIC ACIDEMIA IIA | 0.12 | 0 | 3 | CLINVAR |
Lipid Metabolism Disorders | 0.002638474 | 2 | 0 | BeFree_GAD |
Rheumatoid Arthritis | 0.002367032 | 1 | 1 | GAD |
Myopathy | 0.002367032 | 1 | 0 | GAD |
synovial sarcoma | 0.000814326 | 3 | 0 | BeFree |
Renal Cell Carcinoma | 0.000542884 | 2 | 0 | BeFree |
Celiac Disease | 0.000542884 | 2 | 0 | BeFree |
Diabetes Mellitus, Non-Insulin-Dependent | 0.000542884 | 2 | 1 | BeFree |
Mesothelioma | 0.000542884 | 2 | 0 | BeFree |
Hepatitis C, Chronic | 0.000542884 | 2 | 0 | BeFree |
Gestational Trophoblastic Neoplasms | 0.000542884 | 2 | 0 | BeFree |
Adenocarcinoma | 0.000271442 | 1 | 0 | BeFree |
Alzheimer's Disease | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of breast | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of thyroid | 0.000271442 | 1 | 0 | BeFree |
Diabetes | 0.000271442 | 1 | 0 | BeFree |
Diabetes Mellitus | 0.000271442 | 1 | 0 | BeFree |
Glycogen Storage Disease Type III | 0.000271442 | 1 | 0 | BeFree |
Glycogen Storage Disease Type V | 0.000271442 | 1 | 0 | BeFree |
Hepatitis C | 0.000271442 | 1 | 0 | BeFree |
HIV Infections | 0.000271442 | 1 | 0 | BeFree |
Lymphoma | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of stomach | 0.000271442 | 1 | 0 | BeFree |
Mitral Valve Prolapse Syndrome | 0.000271442 | 1 | 0 | BeFree |
Myoepithelioma | 0.000271442 | 1 | 0 | BeFree |
Neuroblastoma | 0.000271442 | 1 | 0 | BeFree |
Diffuse Large B-Cell Lymphoma | 0.000271442 | 1 | 0 | BeFree |
Encephalopathies | 0.000271442 | 1 | 0 | BeFree |
Ki-1+ Anaplastic Large Cell Lymphoma | 0.000271442 | 1 | 0 | BeFree |
Neuroectodermal Tumor, Primitive | 0.000271442 | 1 | 0 | BeFree |
Metabolic myopathy | 0.000271442 | 1 | 0 | BeFree |
Metastatic melanoma | 0.000271442 | 1 | 0 | BeFree |
Thyroid carcinoma | 0.000271442 | 1 | 0 | BeFree |
Breast Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Stomach Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Central neuroblastoma | 0.000271442 | 1 | 0 | BeFree |
Deficiency of dehydrogenase | 0.000271442 | 1 | 0 | BeFree |
T-cell/histiocyte rich large B-cell lymphoma | 0.000271442 | 1 | 0 | BeFree |
Ethylmalonic encephalopathy | 0.000271442 | 1 | 0 | BeFree |
Gestational trophoblastic disease | 0.000271442 | 1 | 0 | BeFree |
HYDATIDIFORM MOLE, RECURRENT, 1 | 0.000271442 | 1 | 0 | BeFree |
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