This gene encodes a member of the parathyroid family of proteins. The encoded preproprotein is proteolytically processed to generate a protein that binds to the parathyroid hormone/parathyroid hormone-related peptide receptor and regulates blood calcium and phosphate levels. Excess production of the encoded protein, known as hyperparathyroidism, can result in hypercalcemia and kidney stones. On the other hand, defective processing of the encoded protein may lead to hypoparathyroidism, which can result in hypocalcemia and numbness.
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Protein Aliases: Parathormone; Parathyrin; Parathyroid hormone; parathyroid hormone 1; prepro-PTH; preproparathyroid hormone; PTH
Gene Aliases: PTH; PTH1
UniProt ID: (Human) P01270
Entrez Gene ID: (Human) 5741
Molecular Function: peptide hormone