KEGG   VARIANT: 4160v1
Entry
4160v1                      Variant                                
Name
MC4R mutation
Type
Loss of function
Gene
MC4R  melanocortin 4 receptor [KO:K04202]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 155541
Network
nt06544  Neuroactive ligand signaling
Disease
H02106  Genetic obesity
Reference
PMID:9771699
  Authors
Vaisse C, Clement K, Guy-Grand B, Froguel P
  Title
A frameshift mutation in human MC4R is associated with a dominant form of obesity.
  Journal
Nat Genet 20:113-4 (1998)
DOI:10.1038/2407
Reference
PMID:12588803
  Authors
Yeo GS, Lank EJ, Farooqi IS, Keogh J, Challis BG, O'Rahilly S
  Title
Mutations in the human melanocortin-4 receptor gene associated with severe familial obesity disrupts receptor function through multiple molecular  mechanisms.
  Journal
Hum Mol Genet 12:561-74 (2003)
DOI:10.1093/hmg/ddg057
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