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This gene encodes a mitochondrial NAD-dependent malic enzyme, a homotetrameric protein, that catalyzes the oxidative decarboxylation of malate to pyruvate. It had previously been weakly linked to a syndrome known as Friedreich ataxia that has since been shown to be the result of mutation in a completely different gene. Certain single-nucleotide polymorphism haplotypes of this gene have been shown to increase the risk for idiopathic generalized epilepsy. Alternatively spliced transcript variants encoding different isoforms found for this gene. [provided by RefSeq, Dec 2009]
[中文简述(自动翻译):]  这个基因编码线粒体NAD依赖型苹果酸酶,同源四聚体蛋白质,其催化苹果酸氧化脱羧成丙酮酸。它以前曾弱链接到称为弗里德赖希共济失调的综合征是已经被证明是突变在一个完全不同的基因的结果。该基因的某些单核苷酸多态性的单倍型已被证明能增加为特发性全身性癫痫的风险。另外剪接的转录变体发现该基因编码不同的亚型。 [由RefSeq的,2009年12月提供]
ME2基因(以及对应的蛋白质)的细胞分布位置:
ME2基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Idiopathic generalized epilepsy | 0.122909916 | 2 | 0 | BeFree_CTD_human_GAD |
IGA Glomerulonephritis | 0.12 | 1 | 0 | CTD_human |
Opioid-Related Disorders | 0.12 | 0 | 0 | CTD_human |
Epilepsy, Generalized | 0.000542884 | 2 | 0 | BeFree |
Myoclonic Epilepsy, Juvenile | 0.000542884 | 2 | 0 | BeFree |
Astrocytoma | 0.000271442 | 1 | 0 | BeFree |
Bipolar Disorder | 0.000271442 | 1 | 0 | BeFree |
Non-Small Cell Lung Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Inflammatory Bowel Diseases | 0.000271442 | 1 | 0 | BeFree |
leukemia | 0.000271442 | 1 | 0 | BeFree |
Acute Erythroblastic Leukemia | 0.000271442 | 1 | 0 | BeFree |
Lung Neoplasms | 0.000271442 | 1 | 0 | BeFree |
Manic Disorder | 0.000271442 | 1 | 0 | BeFree |
melanoma | 0.000271442 | 1 | 0 | BeFree |
Psychotic Disorders | 0.000271442 | 1 | 0 | BeFree |
Schizophrenia | 0.000271442 | 1 | 0 | BeFree |
Solid tumour | 0.000271442 | 1 | 0 | BeFree |
Manic | 0.000271442 | 1 | 0 | BeFree |
Nonorganic psychosis | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of prostate | 0.000271442 | 1 | 0 | BeFree |
Diffuse malignant mesothelioma | 0.000271442 | 1 | 0 | BeFree |
Prostate carcinoma | 0.000271442 | 1 | 0 | BeFree |
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