检测编号：NS0340106

基因 ACAD8 与疾病

ACAD8编码异丁酰辅酶A脱氢酶（IBD），代谢缬氨酸，该基因突变导致IBD缺乏，缬氨酸不能正常代谢，有害代谢产物堆积。

基因名称	基因全名	基因位置	外显子个数	CDS长度
ACAD8	acyl-CoA dehydrogenase family, member 8	11q25	11	约2201 bp
基因摘要	This gene encodes 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. The encoded protein is a mitochondrial enzyme that functions in catabolism of the branched-chain amino acid valine. Defects in this gene are the cause of isobutyryl-CoA dehydrogenase deficiency.[provided by RefSeq, Nov 2009].