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This gene encodes a member of the hydratase/isomerase superfamily. The protein encoded is a key mitochondrial enzyme involved in beta-oxidation of unsaturated fatty acids. It catalyzes the transformation of 3-cis and 3-trans-enoyl-CoA esters arising during the stepwise degradation of cis-, mono-, and polyunsaturated fatty acids to the 2-trans-enoyl-CoA intermediates. Alternatively spliced transcript variants have been described. [provided by RefSeq, Aug 2011]
[中文简述(自动翻译):]  该基因编码的水合酶/异构酶家族的成员。编码的蛋白质是参与的不饱和脂肪酸的β-氧化的一个关键线粒体酶。它催化3-顺和顺 - ,单 - 和多不饱和脂肪酸向2-反式 - 烯酰-CoA中间体的逐步降解过程中产生的3 - 反式 - 烯酰-CoA酯的转化。可变剪接转录物变体已有描述。 [由RefSeq的,2011年8月提供]
ECI2基因(以及对应的蛋白质)的细胞分布位置:
ECI2基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Aplastic Anemia | 0.002995792 | 1 | 0 | BeFree_LHGDN |
Acquired Immunodeficiency Syndrome | 0.002367032 | 1 | 1 | GAD |
Disease Progression | 0.002367032 | 1 | 1 | GAD |
leukemia | 0.000271442 | 1 | 0 | BeFree |
Myeloid Leukemia | 0.000271442 | 1 | 0 | BeFree |
Paroxysmal nocturnal hemoglobinuria | 0.000271442 | 1 | 0 | BeFree |
Acquired aplastic anemia | 0.000271442 | 1 | 0 | BeFree |
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