PRKRIR
PRKACB Gene: A Critical Regulator in Health and Disease
Description
The PRKACB gene, located on chromosome 19q13.43, encodes the catalytic subunit beta of protein kinase A (PKA). PKA is a key enzyme involved in various cellular processes, including metabolism, proliferation, and apoptosis. The PRKACB gene consists of 18 exons spanning over 50 kb of genomic DNA and produces multiple isoforms through alternative splicing.
Associated Diseases
Mutations in the PRKACB gene have been linked to a range of diseases, including:
- Carney complex: A rare genetic disorder characterized by cardiac myxomas, skin pigmentation (lentigines), and hormone-secreting tumors (predominantly pituitary).
- McCune-Albright syndrome: A related disorder characterized by fibrous dysplasia (abnormal bone growth), skin pigmentation, and precocious puberty.
- Somatic PRKACB mutations: Found in various cancers, including thyroid, adrenocortical, and breast cancer. Mutations in PRKACB can lead to constitutive activation of PKA, promoting cell growth and proliferation.
Did you Know ?
Approximately 1 in 20,000 individuals worldwide are affected by Carney complex, highlighting the rarity of this PRKACB-related disorder.
