LIAS
收藏rgd.mcw.edu2025-01-21 收录
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https://rgd.mcw.edu/rgdweb/report/gene/main.html?id=1316364
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资源简介：
The protein encoded by this gene belongs to the biotin and lipoic acid synthetases family. Localized in the mitochondrion, this iron-sulfur enzyme catalyzes the final step in the de novo pathway for the biosynthesis of lipoic acid, a potent antioxidant. The deficient expression of this enzyme has been linked to conditions such as diabetes, atherosclerosis and neonatal-onset epilepsy. Alternative splicing occurs at this locus, and several transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Aug 2020]
该基因编码的蛋白质属于生物素和脂酰辅酶A合成酶家族。定位于线粒体中，该铁硫酶催化脂酰辅酶A从头合成途径中的最后一步，脂酰辅酶A是一种强效的抗氧化剂。该酶表达的不足与糖尿病、动脉粥样硬化和新生儿癫痫等疾病相关。在此位点发生选择性拼接，已鉴定出编码不同亚型的多种转录变体。[由RefSeq提供，2020年8月]
提供机构：
Rat Genome Database
