Parathyroid Hormone ist ein Gen, das durch das Symbol PTH kodiert wird. Im Allgemeinen auch bezeichnet als: PTH; Parathormone; Parathyrin. Parathyroid Hormone hat eine Masse von 12.86kDa, eine Aminosäurelänge von 115, und ist an Hypoparathyroidism, familial isolated beteiligt.
Wir bieten 8 Parathyroid Hormoneproteine an
Gen- und Proteininformationen
UniProt Zusammenfassung
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.
Entrez Zusammenfassung
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.
Rolle bei Krankheiten
Hypoparathyroidism, familial isolated: A disorder characterized by hypocalcemia and hyperphosphatemia due to inadequate secretion of parathyroid hormone. Clinical features include seizures, tetany and cramps.
Sequenzähnlichkeiten
Belongs to the parathyroid hormone family.
