检测编号：NS0350107

基因 ACADSB 与疾病

ACADSB编码2-甲基丁酰辅酶A脱氢酶，代谢异亮氨酸为机体供能。该基因突变导致2-甲基丁酰辅酶A脱氢酶活性降低或失活，异亮氨酸不能正常代谢，与其相关反应无法正常进行，从而导致嗜睡、肌无力以及其他严重的健康问题。

基因名称	基因全名	基因位置	外显子个数	CDS长度
ACADSB	acyl-CoA dehydrogenase, short/branched chain	10q26.13	11	约5941 bp
基因摘要	Short/branched chain acyl-CoA dehydrogenase(ACADSB) is a member of the acyl-CoA dehydrogenase family of enzymes that catalyze the dehydrogenation of acyl-CoA derivatives in the metabolism of fatty acids or branch chained amino acids. Substrate specificity is the primary characteristic used to define members of this gene family. The ACADSB gene product has the greatest activity towards the short branched chain acyl-CoA derivative, (S)-2-methylbutyryl-CoA, but also reacts significantly with other 2-methyl branched chain substrates and with short straight chain acyl-CoAs. The cDNA encodes for a mitochondrial precursor protein which is cleaved upon mitochondrial import and predicted to yield a mature peptide of approximately 43.7-KDa. [provided by RefSeq, Jul 2008].