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FLASH GENE
Symbol POMC contributors: mct - updated : 03-05-2013
HGNC name proopiomelanocortin
HGNC id 9201
ASSOCIATED DISORDERS
corresponding disease(s) OARH
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional fusion      
aberrant fusion protein interfering with signalling through the MC4R and increasing the risk of obesity
constitutional germinal mutation      
associated with early onset obesity, adrenal insufficiency, and red hair pigmentation
Susceptibility
  • to obesity (early onset)
  • to opioid dependence
  • to alcohol dependence
  • Variant & Polymorphism other
  • mutation R236G
  • 8246C>T significantly associated with leptin and/or body fat deposition
  • DNA methylation of the POMC gene promoter is associated with craving in alcohol dependence
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS