AKAP9

AKAP9 (A-kinase anchor protein 9) is a protein that in humans is encoded by the AKAP9 gene. This protein is part of the A-kinase anchor protein (AKAP) family, a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell.

Function

The AKAP9 protein has a key role in the cell cycle, specifically in the transition from the G1 phase to the S phase. It is also involved in microtubule organization and stability, and in the targeting of protein kinase A (PKA). The protein is known to be involved in the regulation of cardiac action potential duration.

Clinical significance

Mutations in the AKAP9 gene have been associated with a variety of conditions. For example, a specific AKAP9 mutation has been linked to long QT syndrome, a disorder of the heart's electrical activity that can cause sudden, uncontrollable, and irregular heartbeats (arrhythmia), which may lead to sudden death.

See also

• A-kinase anchor proteins
• Long QT syndrome
• Protein kinase A
• Cell cycle

References

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External links

• AKAP9 at the US National Library of Medicine Medical Subject Headings (MeSH)

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