| Popis: |
Argininosuccinate synthetase is an enzyme which functions in the urea cycle in ureotelic animals, and genetic deficiency of the enzyme in man causes an inborn error of metabolism, citrullinemia. The purpose of this chapter is to summarize recent developments in the molecular analysis of the human argininosuccinate synthetase locus and to relate this information to available clinical, metabolic, enzymatic, and genetic information. We also will discuss the opportunities to study gene regulation in tissue culture using this locus. |
