ETFDH
收藏rgd.mcw.edu2025-03-25 收录
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This gene encodes a component of the electron-transfer system in mitochondria and is essential for electron transfer from a number of mitochondrial flavin-containing dehydrogenases to the main respiratory chain. Mutations in this gene are associated with glutaric acidemia. Alternatively spliced transcript variants that encode distinct isoforms have been observed. [provided by RefSeq, Aug 2013]
该基因编码线粒体电子传递系统的一个组分,对于从多种线粒体含黄素脱氢酶向主要呼吸链传递电子至关重要。该基因突变与戊二酸血症相关。此外,观察到具有编码不同同源形式的可变剪接转录本变体。[由RefSeq提供,2013年8月]
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