gap junction protein, alpha 1, 43kDa
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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.
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?|
|Alternate Names:||connexin 43; oculodentodigital dysplasia (syndactyly type III)|
|Alternate Symbols: ||CX43; ODD; ODOD; SDTY3|
|PharmGKB Accession Id:||PA28685|
|Cytogenetic Location:||chr6 : q21 - q23.2|
|GP mRNA Boundary†:||chr6 : 121756745 - 121770873|
|GP Gene Boundary†:||chr6 : 121746745 - 121773873|
PharmGKB Curated Pathways
Pathways created internally by PharmGKB based primarily on literature evidence.
Antiarrhythmic Pathway, Pharmacodynamics
Pharmacodynamic pathway of antiarrhythmic drugs in a stylized cardiac myocyte.
Links to non-PharmGKB pathways.
- c-src mediated regulation of Cx43 function and closure of gap junctions - (Reactome via Pathway Interaction Database)
- Gap junction assembly - (Reactome via Pathway Interaction Database)
- inactivation of gsk3 by akt causes accumulation of b-catenin in alveolar macrophages - (BioCarta via Pathway Interaction Database)
- Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane - (Reactome via Pathway Interaction Database)
- N-cadherin signaling events - (Pathway Interaction Database NCI-Nature Curated)
- Oligomerization of connexins into connexons - (Reactome via Pathway Interaction Database)
- Transport of connexins along the secretory pathway - (Reactome via Pathway Interaction Database)
Publications related to GJA1: 3
The following icons indicate that data of a certain type is available:
- DG Dosing Guideline information is available
- DL Drug Label information is available
- CA High-level Clinical Annotation is available
- VA Variant Annotation is available
- VIP VIP information is available
- PW Pathway is available
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||Gene expression response to cisplatin treatment in drug-sensitive and drug-resistant ovarian cancer cells. Oncogene. 2007. Li J, et al.|
||Treatment-specific changes in gene expression discriminate in vivo drug response in human leukemia cells. Nature genetics. 2003. Cheok Meyling H, et al.|
||The human connexin gene family of gap junction proteins: distinct chromosomal locations but similar structures. Genomics. 1991. Fishman G I, et al.|