Fukuda S, Suzuki Y, Shimozawa N, Zhang Z, Orii T, Aoyama T, Hashimoto T, Kondo N
Department of Pediatrics, Gifu University School of Medicine, Japan.
J Inherit Metab Dis. 1998 Feb;21(1):23-8. doi: 10.1023/a:1005355112975.
Deficiency of enoyl-CoA hydratase: 3-hydroxyacyl-CoA dehydrogenase (peroxisomal bifunctional enzyme), one of the enzymes of the peroxisomal beta-oxidation system, leads to clinical manifestations resembling Zellweger syndrome with hypotonia, psychomotor delay, hepatomegaly, typical facial appearance and accumulation of very long-chain fatty acids. The nucleotide sequence of the human peroxisomal enoyl-CoA hydratase: 3-hydroxyacyl-CoA dehydrogenase cDNA has been reported by Hoefler and colleagues; however, we have found some amino acid differences from our originally isolated cDNA. Contrary to the findings described in a previous paper, we report here the cDNA sequence of human peroxisomal enoyl-CoA hydratase: 3-hydroxyacyl-CoA dehydrogenase in which there are 9 authenticated amino acid alterations.
烯酰辅酶A水合酶：3-羟酰基辅酶A脱氢酶（过氧化物酶体双功能酶）缺乏，这是过氧化物酶体β氧化系统的一种酶，会导致临床表现类似于泽尔韦格综合征，出现肌张力减退、精神运动发育迟缓、肝肿大、典型面容以及极长链脂肪酸蓄积。Hoefler及其同事报道了人过氧化物酶体烯酰辅酶A水合酶：3-羟酰基辅酶A脱氢酶cDNA的核苷酸序列；然而，我们发现其与我们最初分离的cDNA存在一些氨基酸差异。与之前一篇论文中描述的结果相反，我们在此报告人过氧化物酶体烯酰辅酶A水合酶：3-羟酰基辅酶A脱氢酶的cDNA序列，其中有9个经证实的氨基酸改变。
