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: Hormone; Secreted, signal peptide; Apoptosis; Secreted
Chromosomal Location of Human Ortholog: 11p15.3-p15.1
Cellular Component: extracellular region; extracellular space; intracellular
Molecular Function: hormone activity; parathyroid hormone receptor binding; peptide hormone receptor binding; RNA polymerase II transcription factor activity, enhancer binding; type 1 parathyroid hormone receptor binding
Biological Process: bone resorption; cAMP metabolic process; cell-cell signaling; cellular calcium ion homeostasis; G-protein coupled receptor protein signaling pathway; G-protein signaling, adenylate cyclase activating 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 signal transduction; positive regulation of transcription from RNA polymerase II promoter; regulation of gene expression; response to cadmium ion; response to drug; response to ethanol; response to lead ion; response to vitamin D; Rho protein signal transduction; skeletal development
Disease: Hypoparathyroidism, Familial Isolated
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