PTH1R/PTHR1 Proteins and Enzymes

PTH1R (parathyroid receptor-1) is a 7-transmembrane receptor that expressed in bone, kidney and other tissues where its ligands, PTH (parathyroid hormone) and PTHrP (PTH-related protein), are found. Both gain and loss of function are associated with dwarfism in Jansen-type metaphyseal chondrodysplasia, or Blomstrand chondrodysplasia, respectively. Impaired function may be a factor in developmental endochondromas in Ollier disease. Polymorphisms may also be associated with variation in bone mineral density.