URL of this page: https://medlineplus.gov/genetics/gene/arg1/

ARG1 gene

arginase 1
From Genetics Home Reference. Learn more

Normal Function

The ARG1 gene provides instructions for producing the enzyme arginase. This enzyme participates in the urea cycle, a series of reactions that occurs in liver cells. The urea cycle processes excess nitrogen, which is generated when proteins and their building blocks (amino acids) are used by the body. Through the urea cycle, excess nitrogen is made into a compound called urea that is excreted by the kidneys. Excreting the excess nitrogen prevents it from accumulating in the form of ammonia, which is toxic.

Arginase controls the last step of the urea cycle, a reaction in which nitrogen is removed from the amino acid arginine and processed into urea for excretion from the body. A compound called ornithine is also produced in this reaction; it is needed for the urea cycle to repeat.

Health Conditions Related to Genetic Changes

Arginase deficiency

Approximately 12 mutations have been identified in the ARG1 gene. A mutated ARG1 gene may result in an arginase enzyme that is unstable, shorter than usual or the wrong shape, or may prevent the enzyme from being produced at all.

The shape of an enzyme affects its ability to control a chemical reaction. If the arginase enzyme is misshapen or missing, it cannot fulfill its role in the urea cycle. Excess nitrogen is not converted to urea for excretion, and ammonia and arginine accumulate in the body. Ammonia is toxic, especially to the nervous system, and the accumulation of ammonia and arginine are believed to cause the neurological problems and other signs and symptoms of arginase deficiency.

More About This Health Condition

Other Names for This Gene

  • A-I
  • ARGI1_HUMAN
  • arginase, liver
  • arginase, type I

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Research Resources

References

  • Iyer R, Jenkinson CP, Vockley JG, Kern RM, Grody WW, Cederbaum S. The human arginases and arginase deficiency. J Inherit Metab Dis. 1998;21 Suppl 1:86-100. Review. Citation on PubMed
  • Iyer RK, Yoo PK, Kern RM, Rozengurt N, Tsoa R, O'Brien WE, Yu H, Grody WW, Cederbaum SD. Mouse model for human arginase deficiency. Mol Cell Biol. 2002 Jul;22(13):4491-8. Citation on PubMed or Free article on PubMed Central
  • Vockley JG, Goodman BK, Tabor DE, Kern RM, Jenkinson CP, Grody WW, Cederbaum SD. Loss of function mutations in conserved regions of the human arginase I gene. Biochem Mol Med. 1996 Oct;59(1):44-51. Citation on PubMed
From Genetics Home Reference

Genetics Home Reference has merged with MedlinePlus. Genetics Home Reference content now can be found in the "Genetics" section of MedlinePlus. Learn more

The resources on this site should not be used as a substitute for professional medical care or advice. Users with questions about a personal health condition should consult with a qualified healthcare professional.