基因名:
IVD
产品别名:
ACAD2; IVDH; IVD; isovaleryl-CoA dehydrogenase; isovaleryl-CoA dehydrogenase; isovaleryl-CoA dehydrogenase, mitochondrial; butyryl-CoA dehydrogenase; epididymis secretory sperm binding protein; isovaleryl Coenzyme A dehydrogenase; 异戊酰辅酶A脱氢酶; 异戊酰辅酶A脱氢酶(IVD);
背景信息:
Isovaleryl-CoA dehydrogenase (IVD) is a mitochondrial matrix enzyme that catalyzes the third step in leucine catabolism. The genetic deficiency of IVD results in an accumulation of isovaleric acid, which is toxic to the central nervous system and leads to isovaleric acidemia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2009]