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Publication : Isolation of a human cDNA for heme A:farnesyltransferase by functional complementation of a yeast cox10 mutant.

First Author  Glerum DM Year  1994
Journal  Proc Natl Acad Sci U S A Volume  91
Issue  18 Pages  8452-6
PubMed ID  8078902 Mgi Jnum  J:341421
Mgi Id  MGI:7539467 Doi  10.1073/pnas.91.18.8452
Citation  Glerum DM, et al. (1994) Isolation of a human cDNA for heme A:farnesyltransferase by functional complementation of a yeast cox10 mutant. Proc Natl Acad Sci U S A 91(18):8452-6
abstractText  We have cloned the human homolog of the Saccharomyces cerevisiae COX10 gene by functional complementation of a yeast cox10 null mutant. The 2.8-kb cDNA encoding the human heme A:farnesyltransferase codes for a 443-aa protein with high homology to the yeast and bacterial farnesylases. The human COX10 homolog, however, does not complement the mutation as efficiently as the yeast COX10 protein, likely due to the heterologous environment. PCR amplification and Southern analysis confirm the existence of a large mRNA for the human protein, with an unusually long 3' untranslated region. This clone can now be used to screen patients with inherited deficiencies in cytochrome oxidase in which the mutations remain unidentified and are likely to reside in a protein influencing the assembly of the enzyme.
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