Amino acid and nucleotide sequences of human peroxisomal enoyl‐CoA hydratase : 3‐hydroxyacyl‐CoA dehydrogenase cDNA
- 1 February 1998
- journal article
- Published by Wiley in Journal of Inherited Metabolic Disease
- Vol. 21 (1) , 23-28
- https://doi.org/10.1023/a:1005355112975
Abstract
Deficiency of enoyl‐CoA hydratase : 3‐hydroxyacyl‐CoA dehydrogenase (peroxisomal bifunctional enzyme), one of the enzymes of the peroxisomal β‐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.Keywords
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