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PMID:8159699

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Citation

Martasek, P, Camadro, JM, Delfau-Larue, MH, Dumas, JB, Montagne, JJ, de Verneuil, H, Labbe, P and Grandchamp, B (1994) Molecular cloning, sequencing, and functional expression of a cDNA encoding human coproporphyrinogen oxidase. Proc. Natl. Acad. Sci. U.S.A. 91:3024-8

Abstract

Coproporphyrinogen oxidase (EC 1.3.3.3) catalyzes the sixth step in the heme biosynthetic pathway, the oxidation of coproporphyrinogen III to protoporphyrinogen IX. The activity of this enzyme is deficient in the disease hereditary coproporphyria. The sequence of the cDNA and predicted amino acid sequence of the human coproporphyrinogen oxidase are presented. The human protein sequence contains a region completely homologous to that we obtained by sequencing an 11-amino acid peptide fragment from purified murine liver coproporphyrinogen oxidase. Results of Southern blotting were consistent with the presence of a single human coproporphyrinogen oxidase gene, and Northern blotting demonstrated one transcript of similar size in erythroid and nonerythroid cell lines. Expression of the cDNA coding for the putative mature human coproporphyrinogen oxidase in Escherichia coli resulted in a 17-fold increase in coproporphyrinogen activity over endogenous activity.

Links

PubMed PMC43507

Keywords

Amino Acid Sequence; Animals; Base Sequence; Cell Line; Cloning, Molecular; Coproporphyrinogen Oxidase/genetics; DNA Primers/chemistry; DNA, Complementary/genetics; Gene Expression; Genes; Humans; Mice; Molecular Sequence Data; RNA, Messenger/genetics; Restriction Mapping

Significance

Annotations

Gene product Qualifier GO Term Evidence Code with/from Aspect Extension Notes Status

HUMAN:HEM6

involved_in

GO:0006783: heme biosynthetic process

ECO:0000304: author statement supported by traceable reference used in manual assertion

P

Seeded From UniProt

complete


See also

References

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