更多...
收起
This gene encodes one subunit of the 2-oxoglutarate dehydrogenase complex. This complex catalyzes the overall conversion of 2-oxoglutarate (alpha-ketoglutarate) to succinyl-CoA and CO(2) during the Krebs cycle. The protein is located in the mitochondrial matrix and uses thiamine pyrophosphate as a cofactor. A congenital deficiency in 2-oxoglutarate dehydrogenase activity is believed to lead to hypotonia, metabolic acidosis, and hyperlactatemia. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Sep 2009]
[中文简述(自动翻译):]  该基因编码的2-酮戊二酸脱氢酶复合体的一个亚基。这种复杂的催化2-酮戊二酸(α-酮戊二酸),以琥珀酰-CoA三羧酸循环中(2)和CO的总转化率。该蛋白质位于线粒体基质,并使用焦磷酸硫胺素作为辅因子。在2-酮戊二酸脱氢酶活性的先天不足被认为是导致肌张力低下,代谢性酸中毒和hyperlactatemia。在多个转录剪接变异体导致不同的编码亚型。[由RefSeq的,2009年09月提供]
OGDH基因(以及对应的蛋白质)的细胞分布位置:
OGDH基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY | 0.24 | 0 | 0 | CTD_human_ORPHANET |
Primary biliary cirrhosis | 0.000542884 | 2 | 0 | BeFree |
Alzheimer's Disease | 0.000271442 | 1 | 0 | BeFree |
Coronary heart disease | 0.000271442 | 1 | 0 | BeFree |
Leigh Disease | 0.000271442 | 1 | 0 | BeFree |
nervous system disorder | 0.000271442 | 1 | 0 | BeFree |
Neurodegenerative Disorders | 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。