doi: 10.1073/pnas.73.5.1693.
Abnormal ornithine carbamoyltransferase in mice having the sparse-fur mutation
- PMID: 5727
- PMCID: PMC430366
- DOI: 10.1073/pnas.73.5.1693
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Abnormal ornithine carbamoyltransferase in mice having the sparse-fur mutation
Proc Natl Acad Sci U S A.
1976 May.
Abstract
Mice with the X-chromosomal sparse-fur (spf) mutation frequently have urinary bladder stones composed mostly of orotic acid, which was identified by the following criteria: ultraviolet and infrared absorption, spectra, chromatographic behavior, melting point, and reactivity in a specific color test. This clue led to the discovery that spf-bearing mice have an abnormal form of liver ornithine carbamoyltransferase (carbamoylphosphate:L-ornithine carbamoyltransferase, EC 2.1.3.3). Normal ornithine carbamoyltransferase has maximum activity at pH 7.6-8.0 and 80% of maximum activity at pH 10.0.
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