GeneID: 34


Common Name: ARG2 Type: Gene
Chromosome: 14 (NC_000014.9) Locus: NG_011964.1 (ARG2)
HUGO Symbol: ARG2 Full Name: arginase 2
Exons: 8 Introns: 7

Arginase catalyses the hydrolysis of arginine to ornithine and urea. The type II isoform encoded by this gene is located in the mitochondria and expressed in extra-hepatic tissues, especially the kidney. The physiological role of this isoform is poorly understood; it is thought to play a role in nitric oxide and polyamine metabolism. Transcript variants of the type II gene resulting from the use of alternative polyadenylation sites have been described. Sequence variation in the ARG2 gene associated with the HbF response to hydroxyurea (HU) treatment in sickle cell disease patients, suggesting that ARG2 may be a predictor for a mild disease phenotype.

Synonyms: arginase, type II


Sequence Viewer

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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 PubMed
  2. Iyer R, Jenkinson CP, Vockley JG, Kern RM, Grody WW, Cederbaum S, The human arginases and arginase deficiency., J. Inherit. Metab. Dis. , 21(0), 86-100, 1998 PubMed
  3. Kolliopoulou A, Siamoglou S, John A, Sgourou A, Kourakli A, Symeonidis A, Vlachaki E, Chalkia P, Theodoridou S, Ali BR, Katsila T, Patrinos GP, Papachatzopoulou A, Role of Genomic Biomarkers in Increasing Fetal Hemoglobin Levels Upon Hydroxyurea Therapy and in β-Thalassemia Intermedia: A Validation Cohort Study., Hemoglobin, 2019 PubMed
Created on 2014-04-01 14:19:10, Last reviewed on 2021-08-19 14:31:03 (Show full history)

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