PTH

Gene Information
 
Gene Symbol
PTH
 
Aliases
PTH1
 
Entrez Gene ID
 
Gene Name
Parathyroid hormone
 
Chromosomal Location
11p15.3-p15.1
 
HGNC ID
 
Summary
The protein encoded by this gene is a hormone secreted by parathyroid cells. This hormone elevates blood Ca2+ level by dissolving the salts in bone and preventing their renal excretion. Defects in this gene are a cause of familial isolated hypoparathyroidism (FIH). (provided by RefSeq)
 
GeneCards ID
 
UniGene
 
RefSeq DNA
 
RefSeq mRNA
  e!Ensembl
Gene
Transcript  
Protein

Gene Ontology (GO)

GO ID Ontology Definition Evidence Reference
GO:0001501 Biological process Skeletal system development TAS 10913913
GO:0007186 Biological process G-protein coupled receptor protein signaling pathway TAS 7797535
GO:0007267 Biological process Cell-cell signaling TAS 7721880
GO:0008628 Biological process Induction of apoptosis by hormones TAS 10913913
GO:0010468 Biological process Regulation of gene expression IDA 90087
Protein Information
 
Protein Name
Parathyroid hormone
 
Function
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
 
Refseq Proteins
 
UniProt
 
PDB
 
InterPro
Accessions
IPR003625, IPR001415
 
Pfam
Pfam Accession Pfam ID
PF01279 Parathyroid Parathyroid hormone family
 
OMIM
 
Phenotype MIM ID
 
Interactions

Associated Diseases

Diseases References
Bone loss 10077343, 8671970, 10620210, 18587716, 11277262
Calcification 17368185, 8345830, 8392854, 8940801
Cardiovascular diseases 18494747, 17501718
Hypercalcemia 1849762, 16077176, 1993319, 10660809
Osteoporosis 9666934, 18751789, 16172800, 16352693
   
References
 
Primary:

Serum parathyroid hormone concentrations are increased in women with polycystic ovary syndrome.

Panidis Dimitrios, Balaris Christos, Farmakiotis Dimitrios, Rousso David, Kourtis Anargyros, Balaris Vassilios, Katsikis Ilias, Zournatzi Vassiliki, Diamanti-Kandarakis Evanthia
Division of Endocrinology and Human Reproduction, Second Department of Obstetrics and Gynecology, Aristotle University of Thessaloniki, Thessaloniki, Greece. argic@med.auth.gr
Clin Chem. 2005 Sep;51(9):1691-7. Epub 2005 Jul 21.
 
Supporting Literature:
PubMed ID Associated gene/s Associated condition Genetic Mutation Diagnostic Criteria Association with PCOS Ethnicity Conclusion
PRL, SHBG 
 
 
Rotterdam criteria 
Related 
58 obese women with PCOS, 64 overweight women with PCOS, 169 normal-weight women with PCOS, 29 obese controls, 14 overweight controls, 70 normal-weight controls 
The results of the present study are in agreement with previous data supporting an association of increased PTH and decreased vitamin D metabolite concentrations with obesity. Moreover, the present findings indicate, for the first time, that PTH probably is also linked to PCOS-associated hyperandrogenism 

Unreviewed Literature:

PubMed / PMC ID
Title Type of study
26370491
Effect of vitamin D on clinical and biochemical parameters in polycystic ovary syndrome women: A meta-analysis. 
Meta analysis 
24496360
Evaluation of the association of vitamin D deficiency with gonadotropins and sex hormone in obese and non-obese women with polycystic ovary syndrome. 
Clinical study 
25246913, PMC4169685
The effects of calcitriol on improvement of insulin resistance, ovulation and comparison with metformin therapy in PCOS patients: a randomized placebo- controlled clinical trial. 
Effect of treatment 
22464806
Vitamin D supplementation has no effect on insulin resistance assessment in women with polycystic ovary syndrome and vitamin D deficiency. 
Effect of treatment 
22453059
Effects of vitamin D on cardiovascular disease risk factors in polycystic ovary syndrome women with vitamin D deficiency. 
Effect of treatment 

 

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