Melanocortin 4 Receptor

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  • Citations (1)

General Description

Research indicates that genetic variations are key for understanding the genetic basis of complex traits and diseases. Variants can influence phenotypes, the susceptibility of an individual to disease, drug response and human genome evolution. Many SNPs have been associated with common disorders such as diabetes, obesity, and cardiovascular diseases. Further research into identifying the risk factors and understanding the biology of risk variants would enable a more complete view of these conditions and lead to improved disease treatment and prevention.

Focus

Research shows that the MC4R gene is part of the melanocortinergic pathway that controls energy homeostasis and body weight and that certain mutations located within the gene can result in either a reduced function or a total loss of function. Research also shows that there is a negative association of the V103I allele with obesity.

Target Disease/Application

Melanocortin 4 Receptor

Assay ID Clinical Name Gene Symbol Gene Name dbSNP ID  
C__15851270_20 MC4R V103I MC4R Melanocortin 4 Receptor rs2229616

Specifications

General Specifications

# of assays: 1
Technology: TaqMan® Assays
Scale: Available in multiple scales
Intended Use: Research Use Only

Contents and Storage

-20° C

 

Citations & References (1)

  • Melanocortin-4 Receptor Gene Variant I103 Is Negatively Associated with Obesity.

Authors
Frank Geller F, et al.
Journal
Am. J. Hum. Genet. (2004) 74:572–581.