Aliases for PTH Gene
External Ids for PTH Gene
Previous GeneCards Identifiers for PTH Gene
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]
GeneCards Summary for PTH Gene
PTH (Parathyroid Hormone) is a Protein Coding gene. Diseases associated with PTH include Hypoparathyroidism, Familial Isolated, 1 and Familial Isolated Hypoparathyroidism. Among its related pathways are Development_Hedgehog and PTH signaling pathways in bone and cartilage development and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include hormone activity and peptide hormone receptor binding.
UniProtKB/Swiss-Prot Summary for PTH Gene
PTH elevates calcium level by dissolving the salts in bone and preventing their renal excretion. Stimulates [1-14C]-2-deoxy-D-glucose (2DG) transport and glycogen synthesis in osteoblastic cells.