PTH

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]

Description

parathyroid hormone

Protein family

Cancer-related genes, Disease related genes, Mapped to neXtProt, Mapped to UniProt SWISS-PROT, Plasma proteins, Predicted secreted proteins

Chromosome

11:p15.3 (13492054 - 13496181)

Ensembl ID

ENSG00000152266  (ver. 99.38)

Orthologs

Mouse Pth: ENSMUSG00000059077

UniProt

P01270

neXtProt

NX_P01270

Human splice variants
Mouse splice variants