检测编号：NA0400003

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].

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].

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].