KEGG   VARIANT: 4159v1
Entry
4159v1                      Variant                                
Name
MC3R mutation
Type
Loss of function
Gene
MC3R  melanocortin receptor 3 [KO:K04201]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 155540
Network
nt06544  Neuroactive ligand signaling
Disease
H02106  Genetic obesity
Reference
PMID:15292330
  Authors
Tao YX, Segaloff DL
  Title
Functional characterization of melanocortin-3 receptor variants identify a loss-of-function mutation involving an amino acid critical for G protein-coupled  receptor activation.
  Journal
J Clin Endocrinol Metab 89:3936-42 (2004)
DOI:10.1210/jc.2004-0367
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