Human PTH1R/PTHR1 (NP_000307) VersaClone cDNA Summary
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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.
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