- Source: ARG1 (gene)
The human ARG1 gene encodes the protein arginase.
Function
Arginase catalyzes the hydrolysis of arginine to ornithine and urea. At least two isoforms of mammalian arginase exist (types I and II) which differ in their tissue distribution, subcellular localization, immunologic crossreactivity and physiologic function. The type I isoform encoded by this gene, is a cytosolic enzyme and expressed predominantly in the liver as a component of the urea cycle. Inherited deficiency of this enzyme results in argininemia, an autosomal recessive disorder characterized by hyperammonemia. Two transcript variants encoding different isoforms have been found for this gene.
References
External links
Human ARG1 genome location and ARG1 gene details page in the UCSC Genome Browser.
Further reading
This article incorporates text from the United States National Library of Medicine, which is in the public domain.