PTH
LOCUS ID5741
GENE_SYMBOLPTH
GENE NAMEparathyroid hormone
SYNONYMNSPTH1
CHROMOSOME11
HOMOLOGENE ID266
microRNAsNANA
GENE SUMMARY
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]

OBSERVATIONS

Complication Evidence PMID
Nephropathy1. Comparison of DN group and healthy subjects identified statistically significant difference for the FokI polymorphism in VDR gene (P<10-4) and also for the BstBI polymorphism in PTH gene (P=0,023).22777106
Cardiovascular1. PAC was independently related to incident cardiovascular mortality exclusively in patients with elevated PTH and vice versa.25777071