LEP

Gene Information
 
Gene Symbol
LEP
 
Aliases
LEPD, OB, OBS
 
Entrez Gene ID
 
Gene Name
Leptin
 
Chromosomal Location
7q31
 
HGNC ID
 
Summary
This gene encodes a protein that is secreted by white adipocytes, and which plays a major role in the regulation of body weight. This protein, which acts through the leptin receptor, functions as part of a signaling pathway that can inhibit food intake and/or regulate energy expenditure to maintain constancy of the adipose mass. This protein also has several endocrine functions, and is involved in the regulation of immune and inflammatory responses, hematopoiesis, angiogenesis and wound healing. Mutations in this gene and/or its regulatory regions cause severe obesity, and morbid obesity with hypogonadism. This gene has also been linked to type 2 diabetes mellitus development. (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:0001890 Biological process Placenta development IDA 17957153
GO:0048639 Biological process Positive regulation of developmental growth IDA 17957153
Protein Information
 
Protein Name
Leptin
 
Function
May function as part of a signaling pathway that acts to regulate the size of the body fat depot. An increase in the level of LEP may act directly or indirectly on the CNS to inhibit food intake and/or regulate energy expenditure as part of a homeostatic mechanism to maintain constancy of the adipose mass
 
Refseq Proteins
 
UniProt
 
PDB
 
InterPro
 
Pfam
Pfam Accession Pfam ID
PF02024 Leptin Leptin
 
KEGG
 
OMIM
 
Interactions
STRING MINT I2D
ENSP00000312652 P41159

Associated Diseases

Diseases References
Acromegaly 12388920, 12864793, 15055476, 19246978, 9768649, 12780751, 10634378, 19880791, 11167923
Anorexia nervosa 17304762, 11919545, 9169091, 9177394, 9880834, 15993236, 9506729, 19296912, 9713566, 14601488, 15811876, 11032380, 12707489, 17530161, 17060920, 10089013, 9246674, 17900053, 12920654, 16376860, 10808037, 16737142, 19730134, 17541059, 15240636, 10551340, 19018447, 11443155, 10523055, 15817868, 9246658, 18926548, 19662887, 12658369, 10921449, 10199758, 9838240, 9529971, 9380811, 19176740, 17558893, 10441243, 15717648, 11192764, 10754479, 10087516, 9686474, 16136022, 12679468, 11820995, 11220530, 19093738, 18574222, 17413094, 15721489, 15070952, 14994520, 9857982, 9427886, 18657008, 19568484, 17953628, 15841111, 15736180, 14602745, 12920794, 12140788, 10818404, 10221746, 18955869, 18283238, 17327386, 17076196, 11062083, 10837290, 10746040, 9761251, 19095609, 15687326, 15073570, 12772181, 10422608, 19421706, 16904835, 15945489, 12951634, 12364439, 10575675, 9439531, 12880190, 8923829, 18803679, 17395395, 15699239, 9482922, 9857981, 10372743
Bone loss 11459801, 16734391, 18932203, 18430390, 17924050, 11889157, 19343112, 12937239, 16702302, 17072262, 20150868, 18566694, 16728381, 12724016
Bulimia 12880190, 15147079, 17895538, 9427886
Cancer (adenoma) 11422113, 11824504, 11824507, 12691803, 15286449, 9013752, 11824510, 10898807, 12388920, 10443698, 11531921, 9253331, 11489141, 12354126
   
References
 
Primary:

[Peritoneal fluid leptin concentration and endocrine hormone in patients with polycystic ovarian syndrome].

Xiao Song-shu, Xue Min, Deng Xin-liang, Wan Ya-jun
Department of Obstetrics and Gynecology, Third Xiangya Hospital, Central South University, Changsha 410013, China.
Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2006 Oct;31(5):786-91, 796.
 
Supporting Literature:
PubMed ID Associated gene/s Associated condition Genetic Mutation Diagnostic Criteria Association with PCOS Ethnicity Conclusion
 
PCOS,  
 
 
Related 
34 PCOS women, 30 controls 
The results of this study showed that serum leptin levels in a subgroup of overweight women with PCOS and insulin resistance were higher than those expected for their BMI, and therefore leptin might interfere in the pathogenesis of PCOS 
 
PCOS 
 
 
Related 
20 eumenorrheic controls (10 lean [group A] and 10 overweight [group B]) and 24 PCOS women (14 lean [group C] and 10 overweight [group D]) 
Leptin was lower in the lean groups as compared to the overweight group 
Ghrelin, testosterone, immune-reactive insulin (IRI), sex hormone-binding globulin, dehydroepiandrosterone sulfate, cortisol, LH and FSH 
PCOS 
 
 
Related 
45 women with PCOS and 20 controls 
Serum leptin levels have a strong correlation with clinical and hormonal indices of IR 
Ghrelin, testosterone, immune-reactive insulin (IRI), sex hormone-binding globulin, cortisol, luteinizing hormone and follicle-stimulating hormone 
PCOS 
 
 
Related 
45 PCOS, 20 controls 
The ghrelin level in women with PCOS reflects the metabolic and hormonal changes which are characteristics of the syndrome. The inverse correlation between ghrelin and leptin in these women is mediated through metabolic factors. 
Serum visfatin, adiponectin, sex hormone levels 
PCOS 
 
 
Related 
73 PCOS patients, 75 controls 
Patients withPCOS have high visfatin and leptin levels but low adiponectin levels 

Unreviewed Literature:

PubMed / PMC ID
Title Type of study
26406234
Effects of High Intensity Interval Training and Strength Training on Metabolic, Cardiovascular and Hormonal Outcomes in Women with Polycystic Ovary Syndrome: A Pilot Study. 
Clinical study 
26291816
Are serum chemerin levels different between obese and non-obese polycystic ovary syndrome women? 
Clinical study 
26180527, PMC4477211
Leptin as well as Free Leptin Receptor Is Associated with Polycystic Ovary Syndrome in Young Women. 
Clinical study 
26177495
Obesity and inflammatory biomarkers in women with polycystic ovary syndrome. 
Clinical study 
26074346
Peptides: Basic determinants of reproductive functions. 
In vitro 

 

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