Structural organization of the human ornithine transcarbamylase gene

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Ornithine transcarbamylase (OTC; EC 2.1.3.3), the second enzyme of the urea cycle, is a nuclear DNA-coded mitochondrial protein. OTC deficiency is the most common inborn error of the urea cycle and shows an X-linked inheritance. As expression of the OTC gene is confined to the liver and small intestine, studies on the molecular basis of OTC deficiency and intrauterine diagnosis of the disease have been performed in limited cases. Accordingly, we considered that characterization of the normal human OTC gene is prerequisite not only for elucidating the regulatory mechanism of OTC gene expression, but also for developing a DNArelated diagnosis of OTC deficiency. We report herein the isolation and characterization of the entire human OTC gene. The structures of the 5'-flanking region, the first exon, and a part of the first intron were described in a foregoing report (Hata et al., 1986).

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