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Gene Symbol |
OXT |
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Aliases |
OT, OT-NPI, OXT-NPI |
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Entrez Gene ID |
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Gene Name |
Oxytocin/neurophysin I prepropeptide |
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Chromosomal Location |
20p13 |
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HGNC ID |
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Summary |
This gene encodes a precursor protein that is processed to produce oxytocin and neurophysin I. Oxytocin is a posterior pituitary hormone which is synthesized as an inactive precursor in the hypothalamus along with its carrier protein neurophysin I. Together with neurophysin, it is packaged into neurosecretory vesicles and transported axonally to the nerve endings in the neurohypophysis, where it is either stored or secreted into the bloodstream. The precursor seems to be activated while it is being transported along the axon to the posterior pituitary. This hormone contracts smooth muscle during parturition and lactation. It is also involved in cognition, tolerance, adaptation and complex sexual and maternal behaviour, as well as in the regulation of water excretion and cardiovascular functions. [provided by RefSeq, Dec 2013]
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e!Ensembl
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Protein Information |
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Protein Name |
Oxytocin-neurophysin 1, neurophysin I, oxytocin, prepro- (neurophysin I), oxytocin, prepropeptide, oxytocin-neurophysin I, preproprotein |
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Function |
Neurophysin 1 specifically binds oxytocin.; Oxytocin causes contraction of the smooth muscle of the uterus and of the mammary gland. Acts by binding to oxytocin receptor (OXTR) (PubMed:18174156). |
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UniProt |
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Associated Diseases
Disease group | Disease Name | References |
Blood Disorders |
Disseminated Intravascular Coagulation |
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Cardiovascular Diseases |
Hypertensive disease |
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Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
Atonic seizures |
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Endocrine System Diseases |
PCOS |
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Neoplasms |
Anaplastic Carcinoma |
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Colonic Neoplasms |
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Carcinoma |
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Nervous System Diseases |
Epilepsy |
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Seizures |
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Taste Disorders |
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Jacksonian Seizure |
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Nutritional and Metabolic Diseases |
Water Intoxication |
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Psychiatric/Brain disorders |
Autistic Disorder |
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Mental Depression |
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Schizophrenia |
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Anxiety Disorders |
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Pseudocoma |
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Mood Disorders |
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References |
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PubMed ID |
Associated gene/s |
Associated condition |
Genetic Mutation |
Diagnostic Criteria |
Association with PCOS |
Ethnicity |
Conclusion |
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Rotterdam Criteria |
Direct
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80 PCOS infertile patients and 81 Non-PCOS infertile patients |
Finally we suggest other studies for more precise evaluation of oxytocin role as a diagnostic factor in PCOS and also as a prognostic factor for ovarian response and success rates in infertility treatments. To improve PCOS management we suggest studies in future with the aim of finding the effect of different doses of oxytocin in PCOS women to accelerate ovulation induction, weight reduction and to balance their hormonal profile. |
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