GENETIC ENCYCLOPEDIA
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gene: PTH

id5741
symbolPTH
organismHomo sapiens
full nameparathyroid hormone
summaryThis 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]
variant-disease

NM_000315.4(PTH):c.247C>A (p.Arg83=) AND not specified

NM_000315.4(PTH):c.166C>T (p.Arg56Cys) AND not provided

NM_000315.4(PTH):c.52T>C (p.Cys18Arg) AND Hypoparathyroidism familial isolated

NM_000315.4(PTH):c.*55C>T AND Hypoparathyroidism familial isolated

NM_000315.4(PTH):c.67T>C (p.Ser23Pro) AND Hypoparathyroidism familial isolated

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