PTH gene

parathyroid hormone

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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. [provided by RefSeq, Oct 2015]

From 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.

From NCBI Gene:

  • Hypoparathyroidism familial isolated

From UniProt:

Hypoparathyroidism, familial isolated (FIH): A disorder characterized by hypocalcemia and hyperphosphatemia due to inadequate secretion of parathyroid hormone. Clinical features include seizures, tetany and cramps. [MIM:146200]

Cytogenetic Location: 11p15.3, which is the short (p) arm of chromosome 11 at position 15.3

Molecular Location: base pairs 13,492,045 to 13,496,175 on chromosome 11 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 11p15.3, which is the short (p) arm of chromosome 11 at position 15.3