更多...
收起
The protein encoded by this gene is a core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (complex I). Mammalian mitochondrial complex I is composed of at least 43 different subunits, 7 of which are encoded by the mitochondrial genome, and the rest are the products of nuclear genes. The iron-sulfur protein fraction of complex I is made up of 7 subunits, including this gene product. Complex I catalyzes the NADH oxidation with concomitant ubiquinone reduction and proton ejection out of the mitochondria. Mutations in this gene are associated with mitochondrial complex I deficiency. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]
[中文简述(自动翻译):]  由该基因编码的蛋白质是线粒体膜呼吸链NADH脱氢酶(复合体I)的芯亚基。哺乳动物线粒体复合物I由至少43个不同的亚基,其中7是由线粒体基因组编码的,其余的是核基因的产物。复合物I的铁硫蛋白馏分由7亚基,包括该基因产物。复杂的I催化伴泛醌还原和质子弹射出线粒体NADH氧化。在这种基因突变与线粒体复合物I缺陷相关。另外剪接转录变体编码不同亚型也发现了这种基因。[由RefSeq的,2009年10月提供]
NDUFS2基因(以及对应的蛋白质)的细胞分布位置:
NDUFS2基因的本体(GO)信息:
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| MITOCHONDRIAL COMPLEX I DEFICIENCY | 0.360271442 | 2 | 3 | BeFree_CLINVAR_CTD_human_UNIPROT |
| Leigh Disease | 0.121085767 | 4 | 1 | BeFree_ORPHANET |
| Cardiomyopathies | 0.120814326 | 3 | 0 | BeFree_CTD_human |
| Mitochondrial Encephalomyopathies | 0.12 | 1 | 0 | CTD_human |
| NADH:Q(1) Oxidoreductase deficiency | 0.12 | 0 | 0 | ORPHANET |
| Diabetes Mellitus, Experimental | 0.08 | 1 | 0 | RGD |
| Multiple Sclerosis | 0.002638474 | 2 | 0 | BeFree_GAD |
| Meningeal Neoplasms | 0.002367032 | 1 | 1 | GAD |
| Meningioma | 0.002367032 | 1 | 1 | GAD |
| Malignant neoplasm of prostate | 0.002367032 | 1 | 0 | GAD |
| Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency | 0.000542884 | 2 | 0 | BeFree |
| Parasitemia | 0.000271442 | 1 | 0 | BeFree |
| Coinfection | 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。