Gene: PTH
Alternate names for this Gene: FIH1|PTH1
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.
Gene is located in Chromosome: 11
Location in Chromosome : 11p15.3
Description of this Gene: parathyroid hormone
Type of Gene: protein-coding
rs104894271 in
PTH gene and
Hypoparathyroidism familial isolated
PMID 18056632 2007 Signal sequence mutation in autosomal dominant form of hypoparathyroidism induces apoptosis that is corrected by a chemical chaperone.
PMID 10523031 1999 A novel mutation of the signal peptide of the preproparathyroid hormone gene associated with autosomal recessive familial isolated hypoparathyroidism.
PMID 2212001 1990 Mutation of the signal peptide-encoding region of the preproparathyroid hormone gene in familial isolated hypoparathyroidism.
rs6256 in
PTH gene and
ovarian neoplasm
PMID 28935272 2017 Genome-wide association study evaluating single-nucleotide polymorphisms and outcomes in patients with advanced stage serous ovarian or primary peritoneal cancer: An NRG Oncology/Gynecologic Oncology Group study.