PRKAR1B

Ideogram human chromosome 7

PRKAR1B

PRKAR1B is a gene that encodes the regulatory subunit I-beta of protein kinase A (PKA). This gene is located on chromosome 7 in humans. PRKAR1B plays a crucial role in the regulation of PKA activity, which is involved in various cellular processes such as metabolism, gene expression, and cell growth.

Function

PRKAR1B functions as a regulatory subunit of PKA, which is a key enzyme involved in cellular signaling. PKA regulates various cellular processes by phosphorylating target proteins in response to cyclic AMP (cAMP) signaling. PRKAR1B helps to anchor the catalytic subunit of PKA to specific locations within the cell, allowing for precise control of PKA activity.

Clinical Significance

Mutations in the PRKAR1B gene have been associated with Carney complex, a rare genetic disorder characterized by the development of multiple benign tumors in various parts of the body. These tumors can affect the skin, heart, endocrine glands, and other tissues. Understanding the role of PRKAR1B in Carney complex can provide insights into the molecular mechanisms underlying tumor formation and potential therapeutic targets.

Interactions

PRKAR1B interacts with other proteins involved in the PKA signaling pathway, such as the catalytic subunit of PKA and A-kinase anchoring proteins (AKAPs). These interactions are essential for the proper localization and activation of PKA in response to specific cellular signals.