KEGG   VARIANT: 5122v1
Entry
5122v1                      Variant                                
Name
PCSK1 mutation
Type
Loss of function
Gene
PCSK1  proprotein convertase subtilisin/kexin type 1 [KO:K01359]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 162150
Network
nt06544  Neuroactive ligand signaling
Disease
H02105  Prohormone convertase 1/3 deficiency
H02106  Genetic obesity
Reference
PMID:9207799
  Authors
Jackson RS, Creemers JW, Ohagi S, Raffin-Sanson ML, Sanders L, Montague CT, Hutton JC, O'Rahilly S
  Title
Obesity and impaired prohormone processing associated with mutations in the human prohormone convertase 1 gene.
  Journal
Nat Genet 16:303-6 (1997)
DOI:10.1038/ng0797-303
Reference
  Authors
Benzinou M, Creemers JW, Choquet H, Lobbens S, Dina C, Durand E, Guerardel A, Boutin P, Jouret B, Heude B, Balkau B, Tichet J, Marre M, Potoczna N, Horber F, Le Stunff C, Czernichow S, Sandbaek A, Lauritzen T, Borch-Johnsen K, Andersen G, Kiess W, Korner A, Kovacs P, Jacobson P, Carlsson LM, Walley AJ, Jorgensen T, Hansen T, Pedersen O, Meyre D, Froguel P
  Title
Common nonsynonymous variants in PCSK1 confer risk of obesity.
  Journal
Nat Genet 40:943-5 (2008)
DOI:10.1038/ng.177
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