Gene:
ARG1
arginase 1

PharmGKB contains no dosing guidelines for this . To report known genotype-based dosing guidelines, or if you are interested in developing guidelines, click here.

PharmGKB annotates drug labels containing pharmacogenetic information approved by the US Food and Drug Administration (FDA), European Medicines Agency (EMA) and the Pharmaceuticals and Medical Devices Agency, Japan (PMDA). PharmGKB annotations provide a brief summary of the PGx in the label, an excerpt from the label and a downloadable highlighted label PDF file. A list of genes and phenotypes found within the label is mapped to label section headers and listed at the end of each annotation. PharmGKB also attempts to interpret the level of action implied in each label with the "PGx Level" tag.

Sources:

  • FDA Information is gathered from the FDA's "Table of Pharmacogenomic Biomarkers in Drug Labels" and from FDA-approved labels brought to our attention. Please note that drugs may be removed from or added to the FDA's Table without our knowledge. We periodically check the Table for changes and update PharmGKB accordingly. Drugs listed on the Table to our knowledge are tagged with the Biomarker icon. A drug label that has been removed from the Table will not have the Biomarker icon but will continue to have an annotation on PharmGKB stating the label has been removed from the FDA's Table. We acquire label PDF files from DailyMed.
  • EMA European Public Assessment Reports (EPARs) that contain PGx information were identified from [Article:24433361] and also by searching for drugs for which we have PGx-containing FDA drug labels.

We welcome any information regarding drug labels containing PGx information approved by the FDA, EMA, PMDA or other Medicine Agencies around the world - please contact feedback.


last updated 12/13/2013

FDA Label for phenylacetic acid, sodium benzoate and ARG1, ASL, ASS1, CPS1, NAGS, OTC

Informative PGx

Summary

Sodium Phenylacetate and Sodium Benzoate provides an alternate vehicle to urea for waste nitrogen excretion in patients with urea cycle disorders. Urea cycle disorders may be caused by mutations in the genes NAGS, CPS1, OTC, ASS1, ASL and ARG1. This drug-biomarker pair was previously in the FDA's "Table of Pharmacogenomic Biomarkers in Drug Labels" but has subsequently been removed.

Annotation

Sodium Phenylacetate and Sodium Benzoate provides an alternate vehicle to urea for waste nitrogen excretion in patients with urea cycle disorders. Urea cycle disorders may be caused by mutations in the genes NAGS, CPS1, OTC, ASS1, ASL and ARG1. This drug-biomarker pair was previously in the FDA's "Table of Pharmacogenomic Biomarkers in Drug Labels" but has subsequently been removed.

Excerpt from the Sodium Phenylacetate and Sodium Benzoate (Ammonul) drug label:

AMMONUL is a nitrogen binding agent indicated as adjunctive therapy for the treatment of acute hyperammonemia and associated encephalopathy in patients with deficiencies in enzymes of the urea cycle.

Urea cycle disorders can result from decreased activity of any of the following enzymes: N-acetylglutamate synthetase (NAGS), carbamyl phosphate synthetase (CPS), argininosuccinate synthetase (ASS), ornithine transcarbamylase (OTC), argininosuccinate lyase (ASL), or arginase (ARG).

Sodium phenylacetate and sodium benzoate are metabolically active compounds that can serve as alternatives to urea for the excretion of waste nitrogen. Figure 2 is a schematic illustrating how the components of AMMONUL, phenylacetate and benzoate, provide an alternative pathway for nitrogen disposal in patients without a fully functioning urea cycle.

For the complete drug label text with sections containing pharmacogenetic information highlighted, see the sodium Phenylacetate and Sodium Benzoate (Ammonul) drug label.

*Disclaimer: The contents of this page have not been endorsed by the FDA and are the sole responsibility of PharmGKB.

Full label available at DailyMed

Genes and/or phenotypes found in this label

  • ARG1
    • Clinical pharmacology section, other
    • source: FDA Label
  • ASL
    • Clinical pharmacology section, other
    • source: FDA Label
  • ASS1
    • Clinical pharmacology section, other
    • source: FDA Label
  • CPS1
    • Clinical pharmacology section, other
    • source: FDA Label
  • NAGS
    • Clinical pharmacology section, other
    • source: FDA Label
  • OTC
    • Clinical pharmacology section, other
    • source: FDA Label

PharmGKB contains no Clinical Variants that meet the highest level of criteria.

To see more Clinical Variants with lower levels of criteria, click the button at the bottom of the table.

Disclaimer: The PharmGKB's clinical annotations reflect expert consensus based on clinical evidence and peer-reviewed literature available at the time they are written and are intended only to assist clinicians in decision-making and to identify questions for further research. New evidence may have emerged since the time an annotation was submitted to the PharmGKB. The annotations are limited in scope and are not applicable to interventions or diseases that are not specifically identified.

The annotations do not account for individual variations among patients, and cannot be considered inclusive of all proper methods of care or exclusive of other treatments. It remains the responsibility of the health-care provider to determine the best course of treatment for a patient. Adherence to any guideline is voluntary, with the ultimate determination regarding its application to be made solely by the clinician and the patient. PharmGKB assumes no responsibility for any injury or damage to persons or property arising out of or related to any use of the PharmGKB clinical annotations, or for any errors or omissions.

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This is a non-comprehensive list of genetic tests with pharmacogenetics relevance, typically submitted by the manufacturer and manually curated by PharmGKB. The information listed is provided for educational purposes only and does not constitute an endorsement of any listed test or manufacturer.

A more complete listing of genetic tests is found at the Genetic Testing Registry (GTR).

PGx Test Variants Assayed Related Drugs?

The table below contains information about pharmacogenomic variants on PharmGKB. Please follow the link in the "Variant" column for more information about a particular variant. Each link in the "Variant" column leads to the corresponding PharmGKB Variant Page. The Variant Page contains summary data, including PharmGKB manually curated information about variant-drug pairs based on individual PubMed publications. The PMIDs for these PubMed publications can be found on the Variant Page.

The tags in the first column of the table indicate what type of information can be found on the corresponding Variant Page on the appropriate tab.

Links in the "Drugs" column lead to PharmGKB Drug Pages.

List of all ARG1 variant annotations

Variant?
(142)
Alternate Names ? Drugs ? Alleles ?
(+ chr strand)
Function ? Amino Acid?
Translation
No VIP available CA VA
rs2781659 131891820A>G, 2456A>G, 36061277A>G
A > G
Not Available
Alleles, Functions, and Amino Acid Translations are all sourced from dbSNP 142

Overview

Alternate Names:  None
Alternate Symbols:  None
PharmGKB Accession Id: PA24947

Details

Cytogenetic Location: chr6 : q23.2 - q23.2
GP mRNA Boundary: chr6 : 131894365 - 131905468
GP Gene Boundary: chr6 : 131884365 - 131908468
Strand: plus
The mRNA boundaries are calculated using the gene's default feature set from NCBI, mapped onto the UCSC Golden Path. PharmGKB sets gene boundaries by expanding the mRNA boundaries by no less than 10,000 bases upstream (5') and 3,000 bases downstream (3') to allow for potential regulatory regions.

PharmGKB Curated Pathways

Pathways created internally by PharmGKB based primarily on literature evidence.

PharmGKB contains no curated pathways for this gene. If you would like to volunteer to work on a pathway, please let us know.

External Pathways

Links to non-PharmGKB pathways.

  1. IL4-mediated signaling events - (Pathway Interaction Database NCI-Nature Curated)
  2. Ornithine metabolism - (Reactome via Pathway Interaction Database)
  3. Urea synthesis - (Reactome via Pathway Interaction Database)
No related genes are available

Curated Information ?

Curated Information ?

Evidence Disease
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Asthma

Publications related to ARG1: 8

No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Individualizing fetal hemoglobin augmenting therapy for beta-type hemoglobinopathies patients. Pharmacogenomics. 2014. Gravia Aikaterini, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
A genome-wide association study of bronchodilator response in Latinos implicates rare variants. The Journal of allergy and clinical immunology. 2013. Drake Katherine A, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Integrative systems biology approaches in asthma pharmacogenomics. Pharmacogenomics. 2012. Dahlin Amber, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
The pharmacogenetics and pharmacogenomics of asthma therapy. The pharmacogenomics journal. 2011. Tse S M, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Arginase 1 and arginase 2 variations associate with asthma, asthma severity and beta2 agonist and steroid response. Pharmacogenetics and genomics. 2010. Vonk Judith M, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Genetic variation in the urea cycle: a model resource for investigating key candidate genes for common diseases. Human mutation. 2009. Mitchell Sabrina, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
ARG1 is a novel bronchodilator response gene: screening and replication in four asthma cohorts. American journal of respiratory and critical care medicine. 2008. Litonjua Augusto A, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Association of arginase 1 gene polymorphisms with the risk of myocardial infarction and common carotid intima media thickness. Journal of medical genetics. 2007. Dumont Julie, et al. PubMed

LinkOuts

Entrez Gene:
383
OMIM:
207800
608313
UCSC Genome Browser:
NM_000045
RefSeq RNA:
NM_000045
RefSeq Protein:
NP_000036
MutDB:
ARG1
HuGE:
ARG1
Comparative Toxicogenomics Database:
383
ModBase:
P05089
HumanCyc Gene:
HS04231
HGNC:
663

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