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Article

Expression, purification and kinetic characterization of wild-type human ornithine transcarbamylase and a recurrent mutant that produces 'late onset' hyperammonaemia.

The Biochemical journal - 1 Mar 1997

Morizono H, Tuchman M, Rajagopal B S, McCann M T, Listrom C D, Yuan X, Venugopal D, Barany G, Allewell N M

Abstract excerpt

Ornithine Transcarbamylase Deficiency, an X-linked disorder, is the most common cause of inherited urea cycle disorders. Approx. 90 mutations that produce reduced levels of ornithine transcarbamylase (OTCase) activity have been identified in patients [Tuchman (1993) Hum. Mutat. 2, 174-178; Tuchman and Plante (1995) Hum. Mutat. 5, 293-295]. A model of the three-dimensional structure of OTCase, developed on the...

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Identifiers

PMID: 9065786
DOI: 10.1042/bj3220625
PMCID: PMC1218235

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