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The protein encoded by this gene catalyzes the formation of acyl-CoA from fatty acids, ATP, and CoA, using magnesium as a cofactor. The encoded protein plays a major role in fatty acid metabolism in the brain. Translocations with the ETV6 gene are causes of myelodysplastic syndrome with basophilia, acute myelogenous leukemia with eosinophilia, and acute eosinophilic leukemia. Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Apr 2011]
[中文简述(自动翻译):]  由该基因编码的蛋白质催化酰基-CoA的自脂肪酸,ATP和CoA的形成,使用镁作为辅助因子。所编码的蛋白在脂肪酸代谢在大脑中起主要作用。与ETV6基因易位是骨髓增生异常综合征与嗜碱性,嗜酸性粒细胞与急性粒细胞白血病,急性嗜酸性粒细胞白血病的原因。一些转录变异体的编码不同亚型也发现了这种基因。[由RefSeq的,2011年4月提供]
ACSL6基因(以及对应的蛋白质)的细胞分布位置:
ACSL6基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Amphetamine-Related Disorders | 0.12 | 1 | 0 | CTD_human |
Diabetes Mellitus, Experimental | 0.08 | 1 | 0 | RGD |
Inflammation | 0.08 | 1 | 0 | RGD |
Schizophrenia | 0.013635564 | 5 | 0 | BeFree_GAD_LHGDN |
Polycythemia Vera | 0.00272435 | 1 | 0 | LHGDN |
Ovarian Failure, Premature | 0.002638474 | 1 | 0 | BeFree_GAD |
Tobacco Use Disorder | 0.002367032 | 1 | 0 | GAD |
Malignant neoplasm of prostate | 0.002367032 | 1 | 0 | GAD |
Mental disorders | 0.000271442 | 1 | 0 | BeFree |
Premature Menopause | 0.000271442 | 1 | 0 | BeFree |
Schizoaffective Disorder | 0.000271442 | 1 | 0 | BeFree |
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