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PRKAR1A
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PRKAR1A

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Reviewed January 2010

What is the official name of the PRKAR1A gene?

The official name of this gene is “protein kinase, cAMP-dependent, regulatory, type I, alpha.”

PRKAR1A is the gene's official symbol. The PRKAR1A gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the PRKAR1A gene?

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.

How are changes in the PRKAR1A gene related to health conditions?

Carney complex - caused by mutations in the PRKAR1A gene

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.

Where is the PRKAR1A gene located?

Cytogenetic Location: 17q23-q24

Molecular Location on chromosome 17: base pairs 66,508,109 to 66,528,910

The PRKAR1A gene is located on the long (q) arm of chromosome 17 between positions 23 and 24.

The PRKAR1A gene is located on the long (q) arm of chromosome 17 between positions 23 and 24.

More precisely, the PRKAR1A gene is located from base pair 66,508,109 to base pair 66,528,910 on chromosome 17.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about PRKAR1A?

You and your healthcare professional may find the following resources about PRKAR1A helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the PRKAR1A gene or gene products?

  • 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, type I, alpha (tissue specific extinguisher 1)
  • tissue-specific extinguisher 1
  • TSE1

See How are genetic conditions and genes named? in the Handbook.

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding PRKAR1A?

cell ; cell proliferation ; enzyme ; gene ; kinase ; proliferation ; protein ; subunit ; tissue

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

References (8 links)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

 
Reviewed: January 2010
Published: May 13, 2013