Parathyroid Hormone

Alternative Names

  • PTH
  • Parathyrin
  • Parathormone
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OMIM Number

168450

NCBI Gene ID

5741

Uniprot ID

P01270

Length

4,128 bases

No. of Exons

4

No. of isoforms

1

Protein Name

Parathyroid hormone

Molecular Mass

12861 Da

Amino Acid Count

115

Genomic Location

chr11:13,492,053-13,496,180

Gene Map Locus
11p15.3

Description

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. [From RefSeq]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000315.3:c.128G>AUnited Arab EmiratesNC_000011.10:g.13492625C>TLikely PathogenicHypoparathyroidism, Familial Isolated, 1NG_008962.1:g.8396G>A; NM_000315.3:c.128G>A; NP_000306.1:p.Gly43Glu
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