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: Secreted; Hormone; Apoptosis; Secreted, signal peptide

Chromosomal Location of Human Ortholog: 11p15.3-p15.1

Cellular Component: extracellular space; extracellular region

Molecular Function: RNA polymerase II transcription factor activity, enhancer binding; type 1 parathyroid hormone receptor binding; parathyroid hormone receptor binding; peptide hormone receptor binding; hormone activity

Biological Process: response to drug; transcription from RNA polymerase II promoter; positive regulation of signal transduction; induction of apoptosis by hormones; positive regulation of glycogen biosynthetic process; negative regulation of transcription from RNA polymerase II promoter; positive regulation of bone mineralization; G-protein signaling, adenylate cyclase activating pathway; Rho protein signal transduction; cellular calcium ion homeostasis; positive regulation of glucose import; G-protein coupled receptor protein signaling pathway; response to ethanol; response to cadmium ion; response to vitamin D; cAMP metabolic process; cell-cell signaling; regulation of gene expression; response to lead ion; positive regulation of cAMP biosynthetic process; positive regulation of transcription from RNA polymerase II promoter; skeletal development; bone resorption

Disease: Hypoparathyroidism, Familial Isolated