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This gene encodes the alpha subunit of the heterodimeric enzyme succinate coenzyme A ligase. This enzyme is targeted to the mitochondria and catalyzes the conversion of succinyl CoA and ADP or GDP to succinate and ATP or GTP. Mutations in this gene are the cause of the metabolic disorder fatal infantile lactic acidosis and mitochondrial DNA depletion. [provided by RefSeq, Feb 2010]
[中文简述(自动翻译):]  该基因编码的异源二聚体酶琥珀酰辅酶A连接酶的α亚基。这种酶是针对线粒体和催化琥珀酰CoA和ADP或GDP转化为琥珀酸和ATP或GTP。在这个基因的突变是代谢紊乱致命婴儿乳酸酸中毒和线粒体DNA耗尽的原因。 [由RefSeq的,2010年2月提供]
SUCLG1基因(以及对应的蛋白质)的细胞分布位置:
SUCLG1基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) | 0.48 | 3 | 5 | CLINVAR_CTD_human_ORPHANET_UNIPROT |
Stomach Neoplasms | 0.12 | 1 | 0 | CTD_human |
Disease Progression | 0.12 | 1 | 0 | CTD_human |
Depletion of mitochondrial DNA | 0.001085767 | 4 | 0 | BeFree |
Lactic Acidosis, Fatal Infantile | 0.000542884 | 2 | 0 | BeFree |
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