PAQR6
The paqr6 Gene: A Critical Player in Bone Development and Associated Diseases
Introduction
The paqr6 gene, located on chromosome 11q22.3, encodes the Progestin and AdipoQ Receptor 6 (PAQR6) protein. PAQR6 is a G protein-coupled receptor (GPCR) that plays a crucial role in regulating bone development and metabolism.
Description
PAQR6 is a transmembrane protein that is expressed in various tissues, including bone, adipose tissue, and cartilage. It binds to a range of ligands, including progesterone, estrogens, and adiponectin. When activated, PAQR6 initiates signaling pathways that influence cell proliferation, differentiation, and apoptosis.
Associated Diseases
Mutations in the paqr6 gene have been linked to several skeletal disorders, including:
- Osteoporosis: PAQR6 deficiency leads to impaired bone formation and increased bone resorption, resulting in osteoporosis.
- Rickets: In children, paqr6 mutations can cause rickets, a condition characterized by soft and weakened bones.
- Pseudohypoparathyroidism Type 1b: This rare disorder is caused by mutations that affect PAQR6 function, leading to impaired calcium and phosphate regulation.
Did you Know ?
Studies have shown that individuals with a specific variation in the paqr6 gene have a 25% higher risk of developing osteoporosis compared to those without the variation.
