PRKAR1A

PRKAR1A is a gene that provides instructions for making one of the four subunits of the protein kinase A (PKA) enzyme. This enzyme plays a key role in a process known as signal transduction, which transmits signals from outside the cell to the cell's nucleus.

Function

The PRKAR1A gene encodes the regulatory subunit type I-alpha of the cAMP-dependent protein kinase, which is involved in the regulation of cellular functions such as differentiation, proliferation, and apoptosis. Mutations in this gene have been associated with Carney complex, acrodysostosis, and other diseases.

Structure

The PRKAR1A gene is located on the short (p) arm of chromosome 17 at position 22.2. More precisely, the PRKAR1A gene is located from base pair 57,278,406 to base pair 57,294,358 on chromosome 17.

Clinical significance

Mutations in the PRKAR1A gene have been associated with Carney complex, a rare condition characterized by spotty skin pigmentation, heart tumors, and endocrine abnormalities. Mutations in this gene can also cause isolated acrodysostosis, a rare skeletal disorder characterized by short stature and distinctive facial features.

See also

• Protein kinase A
• Carney complex
• Acrodysostosis

External links

• PRKAR1A at NCBI
• PRKAR1A at Genetics Home Reference

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