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This gene encodes a protein that is localized to mitochondria and plays a critical role in iron-sulfur cluster biogenesis. The encoded protein assembles and transfers 4Fe-4S clusters to target apoproteins including succinate dehydrogenase and lipoic acid synthase. Mutations in this gene are a cause of multiple mitochondrial dysfunctions syndrome-1, and pseudogenes of this gene are located on the short arms of chromosomes 1 and 3. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
[中文简述(自动翻译):]  该基??因编码定位于线粒体起着铁硫簇生物合成关键作用的蛋白质。编码蛋白组装和个4Fe-4S集群转移到目标载脂蛋白含琥珀酸脱氢酶,硫辛酸合酶。在这个基因的突变是多种线粒体功能障碍综合征-1的一个原因,并且该基因的假基因位于染色体1和3编码多种亚型已为这种基因观察到的备选剪接转录变体的短臂。 [由RefSeq的,2011年12月提供]
NFU1基因(以及对应的蛋白质)的细胞分布位置:
NFU1基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 | 0.24 | 1 | 0 | ORPHANET_UNIPROT |
Encephalopathies | 0.000542884 | 2 | 0 | BeFree |
Paraparesis, Spastic | 0.000271442 | 1 | 0 | BeFree |
Spastic Paraplegia | 0.000271442 | 1 | 0 | BeFree |
Mitochondrial Myopathies | 0.000271442 | 1 | 1 | BeFree |
Leukoencephalopathies | 0.000271442 | 1 | 0 | BeFree |
Impaired exercise tolerance | 0.000271442 | 1 | 0 | BeFree |
Mitochondrial Diseases | 0.000271442 | 1 | 0 | BeFree |
Lafora Disease | 0.000271442 | 1 | 0 | BeFree |
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