检测编号：NS0400113

基因 ETFB 与疾病

ETFA和ETFB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
ETFB	electron-transfer-flavoprotein, beta polypeptide	19q13.3	6	约1301 bp
基因摘要	This gene encodes electron-transfer-flavoprotein, beta polypeptide, which shuttles electrons between primary flavoprotein dehydrogenases involved in mitochondrial fatty acid and amino acid catabolism and the membrane-bound electron transfer flavoprotein ubiquinone oxidoreductase. The gene deficiencies have been implicated in type II glutaricaciduria. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008].