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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 these subunits 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. Protein kinase A remains off when the regulatory subunits are attached to the other two subunits of the enzyme.

Health Conditions Related to Genetic Changes

Carney complex

Several variants (also called mutations) in the PRKAR1A gene have been found to cause Carney complex, a disorder that is characterized by changes in skin coloring (pigmentation) and an increased risk of various types of tumors. These variants cause cells to produce fewer functioning regulatory subunits for protein kinase A. As a result, protein kinase A is 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.

Some people with variants in the PRKAR1A gene develop noncancerous (benign) tumors called myxomas in the heart (cardiac myxomas) or a specific type of adrenal tumor called primary pigmented nodular adrenocortical disease (PPNAD). Though these tumors are commonly found in people with Carney complex, some people with PRKAR1A variants develop cardiac myxomas or PPNAD without the additional features of Carney complex.

More About This Health Condition

Other disorders

Variants in the PRKAR1A gene also cause acrodysostosis type 1, a rare skeletal disorder that is characterized by short stature and unusually short fingers and toes (brachydactyly). Affected individuals are often resistant to the effects of several hormones. They may also have bones that grow and develop more quickly and that stop growing sooner than usual (advanced bone age). The PRKAR1A variants that cause acrodysostosis type 1 lead to a decrease in protein kinase A activity, which disrupts cell growth and division and leads to the skeletal abnormalities seen in people with this condition.

Other Names for This Gene

  • CAR
  • CNC1
  • PKR1
  • PRKAR1
  • Prkar1alpha
  • protein kinase A, RI-alpha subunit
  • protein kinase, cAMP-dependent, regulatory subunit type I alpha
  • protein kinase, cAMP-dependent, regulatory, type I, alpha
  • 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
  • Muhn F, Klopocki E, Graul-Neumann L, Uhrig S, Colley A, Castori M, Lankes E, Henn W, Gruber-Sedlmayr U, Seifert W, Horn D. Novel mutations of the PRKAR1A gene in patients with acrodysostosis. Clin Genet. 2013 Dec;84(6):531-8. doi: 10.1111/cge.12106. Epub 2013 Feb 21. 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; 1993-2025. Available from http://www.ncbi.nlm.nih.gov/books/NBK1286/ Citation on PubMed

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