GeneID: 154


Names

Common Name: ARG1 Type: Gene
Chromosome: 6 (NC_000006.12) Locus: NG_007086.2 (ARG1)
HUGO Symbol: ARG1 Full Name: arginase 1
Exons: 8 Introns: 7

Description:
Arginase catalyses the hydrolysis of arginine to ornithine and urea, thus playing an essential role in the regulation of nitric oxide and polyamine metabolism. The type I isoform encoded by this gene is localised to the cytoplasm and expressed predominately in the liver. Enzyme deficiency results in argininemia characterized by hyperammonemia, progressive mental impairement, spasticity and growth retardation. Polymorphisms in the ARG1 gene associated with the HbF response to hydroxyurea (HU) in sickle cell patients. Two transcript variants encoding different isoforms have been found for this gene.

Synonyms: arginase, liver

Comments:
N/A

Publications / Origin

  1. Vockley JG, Jenkinson CP, Shukla H, Kern RM, Grody WW, Cederbaum SD, Cloning and characterization of the human type II arginase gene., Genomics , 38(2), 118-23, 1996
  2. Wu G, Morris SM, Arginine metabolism: nitric oxide and beyond., Biochem. J. , 336(0), 1-17, 1998
  3. Di Costanzo L, Sabio G, Mora A, Rodriguez PC, Ochoa AC, Centeno F, Christianson DW, Crystal structure of human arginase I at 1.29-A resolution and exploration of inhibition in the immune response., Proc. Natl. Acad. Sci. U.S.A. , 102(37), 13058-63, 2005
  4. Ware RE, Despotovic JM, Mortier NA, Flanagan JM, He J, Smeltzer MP, Kimble AC, Aygun B, Wu S, Howard T, Sparreboom A, Pharmacokinetics, pharmacodynamics, and pharmacogenetics of hydroxyurea treatment for children with sickle cell anemia., Blood , 118(18), 4985-91, 2011
Created on 2016-05-25 16:05:16, Last reviewed on 2016-10-21 14:08:16 (Show full history)


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