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首页> 外文期刊>Journal of inherited metabolic disease >Amino acid and nucleotide sequences of human peroxisomal enoyl-CoA hydratase: 3-hydroxyacyl-CoA dehydrogenase cDNA.
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Amino acid and nucleotide sequences of human peroxisomal enoyl-CoA hydratase: 3-hydroxyacyl-CoA dehydrogenase cDNA.

机译：人过氧化物酶体烯酰辅酶A水合酶的氨基酸和核苷酸序列：3-羟酰基辅酶A脱氢酶cDNA。

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摘要

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.
机译：烯酰辅酶A水合酶缺乏症：3-羟酰辅酶A脱氢酶（过氧化物酶体双功能酶）是过氧化物酶体β-氧化系统的一种酶，导致临床表现类似Zellweger综合征，表现为低渗，精神运动迟缓，肝肿大，典型的面部外观和积累非常长链的脂肪酸。人过氧化物酶体烯酰辅酶A水合酶的核苷酸序列：3-羟酰基辅酶A脱氢酶cDNA已由Hoefler及其同事报道;该文献已被公开。但是，我们发现与我们最初分离的cDNA有一些氨基酸差异。与先前论文中描述的发现相反，我们在此报告人过氧化物酶体烯酰辅酶A水合酶的cDNA序列：3-羟酰基辅酶A脱氢酶，其中存在9个经过验证的氨基酸改变。

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