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URL of this page: https://medlineplus.gov/genetics/gene/prkar1a/

PRKAR1A gene

protein kinase cAMP-dependent type I regulatory subunit alpha

Normal Function

The PRKAR1A gene provides instructions for making one part (subunit) of an enzyme called protein kinase A. This enzyme promotes cell growth and division (proliferation). Protein kinase A is made up of four protein subunits, two of which are called regulatory subunits because they control whether this enzyme is turned on or off. The PRKAR1A gene provides instructions for making one of these regulatory subunits, called type 1 alpha. Protein kinase A remains turned off when the regulatory subunits are attached to the other two subunits of the enzyme. In order to turn on protein kinase A, the regulatory subunits must break away from the enzyme.

Health Conditions Related to Genetic Changes

Carney complex

More than 117 mutations in the PRKAR1A gene have been found to cause Carney complex. Most of these mutations result in an abnormal type 1 alpha regulatory subunit that is quickly broken down (degraded) by the cell. The lack of this regulatory subunit causes protein kinase A to be turned on more often than normal, which leads to uncontrolled cell proliferation. The signs and symptoms of Carney complex are related to the unregulated growth of cells in many parts of the body.

More About This Health Condition

Other Names for This Gene

  • cAMP-dependent protein kinase regulatory subunit RIalpha
  • cAMP-dependent protein kinase type I-alpha regulatory chain
  • CAR
  • CNC1
  • DKFZp779L0468
  • KAP0_HUMAN
  • MGC17251
  • PKR1
  • PPNAD1
  • PRKAR1
  • protein kinase A type 1a regulatory subunit
  • protein kinase, cAMP-dependent, regulatory subunit type I alpha
  • protein kinase, cAMP-dependent, regulatory, type I, alpha
  • protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1)
  • tissue-specific extinguisher 1
  • TSE1

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Gene and Variant Databases

References

  • Bertherat J, Horvath A, Groussin L, Grabar S, Boikos S, Cazabat L, Libe R, Rene-Corail F, Stergiopoulos S, Bourdeau I, Bei T, Clauser E, Calender A, Kirschner LS, Bertagna X, Carney JA, Stratakis CA. Mutations in regulatory subunit type 1A of cyclic adenosine 5'-monophosphate-dependent protein kinase (PRKAR1A): phenotype analysis in 353 patients and 80 different genotypes. J Clin Endocrinol Metab. 2009 Jun;94(6):2085-91. doi: 10.1210/jc.2008-2333. Epub 2009 Mar 17. Citation on PubMed or Free article on PubMed Central
  • Horvath A, Bossis I, Giatzakis C, Levine E, Weinberg F, Meoli E, Robinson-White A, Siegel J, Soni P, Groussin L, Matyakhina L, Verma S, Remmers E, Nesterova M, Carney JA, Bertherat J, Stratakis CA. Large deletions of the PRKAR1A gene in Carney complex. Clin Cancer Res. 2008 Jan 15;14(2):388-95. doi: 10.1158/1078-0432.CCR-07-1155. Citation on PubMed
  • Kirschner LS, Carney JA, Pack SD, Taymans SE, Giatzakis C, Cho YS, Cho-Chung YS, Stratakis CA. Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit in patients with the Carney complex. Nat Genet. 2000 Sep;26(1):89-92. doi: 10.1038/79238. Citation on PubMed
  • Kirschner LS. Use of mouse models to understand the molecular basis of tissue-specific tumorigenesis in the Carney complex. J Intern Med. 2009 Jul;266(1):60-8. doi: 10.1111/j.1365-2796.2009.02114.x. Citation on PubMed
  • Pereira AM, Hes FJ, Horvath A, Woortman S, Greene E, Bimpaki E, Alatsatianos A, Boikos S, Smit JW, Romijn JA, Nesterova M, Stratakis CA. Association of the M1V PRKAR1A mutation with primary pigmented nodular adrenocortical disease in two large families. J Clin Endocrinol Metab. 2010 Jan;95(1):338-42. doi: 10.1210/jc.2009-0993. Epub 2009 Nov 13. Citation on PubMed or Free article on PubMed Central
  • Stratakis CA. Carney Complex. 2003 Feb 5 [updated 2023 Sep 21]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. Available from http://www.ncbi.nlm.nih.gov/books/NBK1286/ Citation on PubMed

The information on this site should not be used as a substitute for professional medical care or advice. Contact a health care provider if you have questions about your health.