Parathyroid Hormone (PTH) Antibody – Mouse Monoclonal

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]

PTH: 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. Defects in PTH are a cause of familial isolated hypoparathyroidism (FIH); also called autosomal dominant hypoparathyroidism or autosomal dominant hypocalcemia. FIH is characterized by hypocalcemia and hyperphosphatemia due to inadequate secretion of parathyroid hormone. Symptoms are seizures, tetany and cramps. FIH exist both as autosomal dominant and recessive forms of hypoparathyroidism. Belongs to the parathyroid hormone family.

Protein type: Apoptosis; Hormone; Secreted; Secreted, signal peptide

Chromosomal Location of Human Ortholog: 11p15.3

Cellular Component: extracellular region; extracellular space

Molecular Function: parathyroid hormone receptor binding; peptide hormone receptor binding; RNA polymerase II transcription factor activity, enhancer binding

Biological Process: bone resorption; cAMP metabolic process; G-protein coupled receptor protein signaling pathway; induction of apoptosis by hormones; negative regulation of transcription from RNA polymerase II promoter; positive regulation of bone mineralization; positive regulation of cAMP biosynthetic process; positive regulation of glucose import; positive regulation of glycogen biosynthetic process; positive regulation of transcription from RNA polymerase II promoter; regulation of gene expression; skeletal development

Disease: Hypoparathyroidism, Familial Isolated