Parathyroid hormone (PTH)

PTH is produced in the parathyroid gland as an 84 amino acid single chain polypeptide. It can also be secreted as N-terminal truncated fragments or C-terminal fragments after intracellular degradation, as in case of hypercalcemia. Defects in this gene 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.