Parathyroid Hormone è un gene codificato dal simbolo PTH. Comunemente indicato anche come: PTH; Parathormone; Parathyrin. Parathyroid Hormone ha una massa di 12.86kDa, una lunghezza di amminoacidi di 115, ed è implicato in Hypoparathyroidism, familial isolated.
Offriamo 7 proteine Parathyroid Hormone
Informazioni su geni e proteine
Riepilogo 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.
Sommario di 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.
Coinvolgimento nella malattia
Hypoparathyroidism, familial isolated: A disorder characterized by hypocalcemia and hyperphosphatemia due to inadequate secretion of parathyroid hormone. Clinical features include seizures, tetany and cramps.
Somiglianze di sequenza
Belongs to the parathyroid hormone family.
Posizione cellulare
Secreted.
