Gene:
GBA
glucosidase, beta, acid

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), the Pharmaceuticals and Medical Devices Agency, Japan (PMDA), and Health Canada (Santé Canada) (HCSC). 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.

See the legend for more information about drug label sources and PGx Levels.

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



last updated 01/15/2014

FDA Label for velaglucerase alfa and GBA

Genetic testing required

Summary

Velaglucerase alfa (VPRIV) is indicated as a long-term enzyme replacement therapy for patients with type 1 Gaucher disease. Gaucher disease is caused by mutations in the GBA gene, resulting in a deficiency of the enzyme beta-glucocerebrosidase. Velaglucerase alfa has the same amino acid sequence as naturally occurring glucocerebrosidase. This drug-biomarker pair was previously in the FDA's "Table of Pharmacogenomic Biomarkers in Drug Labels" but has subsequently been removed.

There's more of this label. Read more.


last updated 08/06/2014

European Medicines Agency (EMA) Label for velaglucerase alfa and GBA

Genetic testing required

Summary

The EMA European Public Assessment Report (EPAR) for velaglucerase alfa (VPRIV) states that the drug is indicated as a long-term enzyme replacement therapy for patients with type 1 Gaucher disease. Gaucher disease is caused by mutations in the GBA gene, resulting in a deficiency of the lysosomal enzyme beta-glucocerebrosidase.

There's more of this label. Read more.


last updated 06/08/2015

Health Canada Santé Canada (HCSC) Label for velaglucerase alfa and GBA

Genetic testing required

Summary

The product monograph for velaglucerase alfa (VPRIV) states that it is indicated for the treatment of type 1 Gaucher disease. Gaucher disease is caused by mutations in the GBA gene, resulting in a deficiency of the enzyme beta-glucocerebrosidase. Velaglucerase alfa is an enzyme replacement therapy.

There's more of this label. Read more.


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

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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Overview

Alternate Names:  GLUC
Alternate Symbols:  GBA1
PharmGKB Accession Id: PA28591

Details

Cytogenetic Location: chr1 : q22 - q22
GP mRNA Boundary: chr1 : 155204239 - 155214653
GP Gene Boundary: chr1 : 155201239 - 155224653
Strand: minus

Visualization

UCSC has a Genome Browser that you can use to view PharmGKB annotations for this gene in context with many other sources of information.

View on UCSC Browser
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.
No related genes are available

Curated Information ?

Evidence Drug
No Dosing Guideline available DL No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
velaglucerase alfa
No related diseases are available

Publications related to GBA: 2

No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. The New England journal of medicine. 2009. Sidransky E, 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
Classification of pediatric acute lymphoblastic leukemia by gene expression profiling. Blood. 2003. Ross Mary E, et al. PubMed