Background

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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015],disease: Defects in PTH are a cause of familial isolated hypoparathyroidism (FIH) [MIM:146200]. FIH exist both as autosomal dominant and recessive forms of hypoparathyroidism. Function elevates calcium level by dissolving the salts in bone and preventing their renal excretion., online information: Parathyroid hormone entry,similarity:Belongs to the parathyroid hormone family.,