Anti-PTHR1 antibody detects endogenous levels of total PTHR1 protein.
PTHR1 (parathyroid hormone 1 receptor) gene is mapped to human chromosome 3p21.31. The gene encodes for a precursor (secretin-like class II G protein-coupled receptor) that matures to a receptor containing 593 amino acids. This receptor contains an extracellular loop with a PTH binding site and an intracellular signaling domain. It also includes seven transmembrane and helical segments. The gene is predominantly expressed in osteoblasts and renal tubular cells.
Heterozygous mutation of PTHR1 (parathyroid hormone 1 receptor) gene is known to cause primary failure of tooth eruption in human, with partial eruption of posterior teeth and reduced alveolar growth process. PTHR1 is associated with bone remodeling (bone formation and resorption, anabolic and catabolic responses respectively) and calcium homeostasis. Blomstrand chondrodysplasia results due to complete loss of PTHR1 function, and is considered lethal.
