ACSF3
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https://rgd.mcw.edu/rgdweb/report/gene/main.html?id=1604214
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资源简介：
This gene encodes a member of the acyl-CoA synthetase family of enzymes that activate fatty acids by catalyzing the formation of a thioester linkage between fatty acids and coenzyme A. The encoded protein is localized to mitochondria, has high specificity for malonate and methylmalonate and possesses malonyl-CoA synthetase activity. Mutations in this gene are a cause of combined malonic and methylmalonic aciduria. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Sep 2013]
本基因编码酰基辅酶A合成酶家族的一种酶，通过催化脂肪酸与辅酶A之间形成硫酯键来激活脂肪酸。编码的蛋白质定位于线粒体，对富马酸和甲基富马酸具有高度特异性，并具有富马酰辅酶A合成酶活性。本基因中的突变是复合型富马酸和甲基富马酸尿症的原因。对于此基因，已观察到可变剪接的转录本变体。[由RefSeq提供，2013年9月]
提供机构：
Rat Genome Database
