基因名：
ACOX1
产品别名：
ACOX； MITCH； PALMCOX； SCOX； ACOX1； acyl-CoA oxidase 1； acyl-CoA oxidase 1； peroxisomal acyl-coenzyme A oxidase 1； AOX； acyl-CoA oxidase 1, palmitoyl； acyl-CoA oxidase, straight-chain； acyl-Coenzyme A oxidase 1, palmitoyl； palmitoyl-CoA oxidase； peroxisomal fatty acyl-CoA oxidase； straight-chain acyl-CoA oxidase； 精氨酸氨基肽酶B； 过氧化物酶酰基辅酶A氧化酶1； 过氧化物酶酰基辅酶A氧化酶1蛋白； 酰基辅酶A氧化酶1(ACOX1)；
背景信息：
Defects in ACOX1 are the cause of adrenoleukodystrophy pseudoneonatal (Pseudo-NALD); also known as peroxisomal acyl-CoA oxidase deficiency. Pseudo-NALD is a peroxisomal single-enzyme disorder. Clinical features include mental retardation, leukodystrophy, seizures, mild hepatomegaly, hearing deficit. Pseudo-NALD is characterized by increased plasma levels of very-long chain fatty cids, due to decreased or absent peroxisome acyl-CoA oxidase activity. Peroxisomes are intact and functioning.
