Gene: ARG1

Alternate names for this Gene: -

Gene Summary: 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.

Gene is located in Chromosome: 6

Location in Chromosome : 6q23.2

Description of this Gene: arginase 1

Type of Gene: protein-coding

rs143633948 in ARG1 gene and ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO PMID 27339598 2016 A new 3p25 locus is associated with liver fibrosis progression in human immunodeficiency virus/hepatitis C virus-coinfected patients.

rs143633948 in ARG1 gene and AIDS, PROGRESSION TO PMID 27339598 2016 A new 3p25 locus is associated with liver fibrosis progression in human immunodeficiency virus/hepatitis C virus-coinfected patients.

rs2491204 in ARG1 gene and C-reactive protein measurement PMID 24763700 2014 New variants including ARG1 polymorphisms associated with C-reactive protein levels identified by genome-wide association and pathway analysis.

rs2781656 in ARG1 gene and Creatinine measurement, serum (procedure) PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs56013828 in ARG1 gene and Diabetes PMID 31451708 2019 Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program.

rs56013828 in ARG1 gene and Diabetes Mellitus PMID 31451708 2019 Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program.

rs11442179 in ARG1 gene and Glomerular Filtration Rate PMID 31451708 2019 Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program.

PMID 31015462 2019 Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis.

PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

PMID 31152163 2019 A catalog of genetic loci associated with kidney function from analyses of a million individuals.

PMID 30604766 2019 Trans-ethnic kidney function association study reveals putative causal genes and effects on kidney-specific disease aetiologies.

rs143633948 in ARG1 gene and HIV-1 infection PMID 27339598 2016 A new 3p25 locus is associated with liver fibrosis progression in human immunodeficiency virus/hepatitis C virus-coinfected patients.

rs143633948 in ARG1 gene and HIV-1, RESISTANCE TO PMID 27339598 2016 A new 3p25 locus is associated with liver fibrosis progression in human immunodeficiency virus/hepatitis C virus-coinfected patients.

rs143633948 in ARG1 gene and HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO PMID 27339598 2016 A new 3p25 locus is associated with liver fibrosis progression in human immunodeficiency virus/hepatitis C virus-coinfected patients.

rs143633948 in ARG1 gene and Hepatitis C PMID 27339598 2016 A new 3p25 locus is associated with liver fibrosis progression in human immunodeficiency virus/hepatitis C virus-coinfected patients.

rs28941474 in ARG1 gene and Hyperargininemia PMID 1463019 1992 Three novel mutations in the liver-type arginase gene in three unrelated Japanese patients with argininemia.

PMID 22959135 2012 Analysis of novel ARG1 mutations causing hyperargininemia and correlation with arginase I activity in erythrocytes.

PMID 23859858 2013 Five novel mutations in ARG1 gene in Chinese patients of argininemia.

PMID 7649538 1995 Molecular basis of phenotypic variation in patients with argininemia.

rs2807278 in ARG1 gene and Obesity PMID 21552555 2011 A genome-wide association study on obesity and obesity-related traits.