Molecular basis of hyperargininemia: structure-function consequences of mutations in human liver arginase.

Abstract excerpt

Hyperargininemia is a rare autosomal recessive disorder that results from a deficiency of hepatic type I arginase. At the genetic level, this deficiency in arginase activity is a consequence of random point mutations throughout the gene that lead to premature termination of the protein or to substitution mutations. Given the high degree of sequence homology between human liver and rat liver enzymes, we have...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Amino Acid Metabolism, Inborn Errors
• Share to Arginine