Parathyroid Hormone est un gène codé par le symbole PTH. Communément appelé aussi: PTH; Parathormone; Parathyrin. Parathyroid Hormone a une masse de 12.86kDa, une longueur d'acide aminé de 115, et est impliqué dans Hypoparathyroidism, familial isolated.
Nous proposons 8 Parathyroid Hormone protéines
Informations sur les Gènes et les Protéines
Résumé UniProt
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.
Résumé Entrez
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.
Implication dans la maladie
Hypoparathyroidism, familial isolated: A disorder characterized by hypocalcemia and hyperphosphatemia due to inadequate secretion of parathyroid hormone. Clinical features include seizures, tetany and cramps.
Similitudes de séquence
Belongs to the parathyroid hormone family.
Localisation cellulaire
Secreted.
Liens de base de données
