检测编号：NS0400114

基因 ETFDH 与疾病

ETFA和ETFB基因分别编码电子转移黄素蛋白的2个亚基，ETFDH编码电子转移黄素蛋白脱氢酶，这2个酶存在于线粒体中，与供能相关，这3个基因的缺陷导致相应的酶活性降低，影响线粒体能量代谢，中间代谢产物累积在细胞中导致损害。

基因名称	基因全名	基因位置	外显子个数	CDS长度
ETFDH	electron-transferring-flavoprotein dehydrogenase	4q32-q35	12	约2255 bp
基因摘要	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].