Article
Expression analysis of two mutant human ornithine transcarbamylases in COS-7 cells.
Journal of human genetics - 1 Jan 1998
Kogo T, Satoh Y, Kanazawa M, Yamamoto S, Takayanagi M, Ohtake A, Mori M, Niimi H
Abstract excerpt
Ornithine transcarbamylase (OTC) is located in the mitochondrial matrix of the liver and small intestine and catalyzes the second step of the urea cycle. OTC deficiency (OTCD) is an X-linked inborn error of metabolism and causes hyperammonemia. We reported in 1992 the A152V and G195R mutations in patients with OTCD. These mutant OTC cDNAs were prepared by site-directed mutagenesis using the polymerase chain...
Topics
- Animals
- Base Sequence
- COS Cells
- Chlorocebus aethiops
- DNA Primers
- Gene Expression
- Humans
- Mutation
- Ornithine Carbamoyltransferase
- Ornithine Carbamoyltransferase Deficiency Disease
- Polymerase Chain Reaction