检测编号：NS0400112

基因 ETFA 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
ETFA	electron-transfer-flavoprotein, alpha polypeptide	15q23-q25	12	约1354 bp
基因摘要	ETFA participates in catalyzing the initial step of the mitochondrial fatty acid beta-oxidation. It shuttles electrons between primary flavoprotein dehydrogenases and the membrane-bound electron transfer flavoprotein ubiquinone oxidoreductase. Defects in electron-transfer-flavoprotein have been implicated in type II glutaricaciduria in which multiple acyl-CoA dehydrogenase deficiencies result in large excretion of glutaric, lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].