KEGG   VARIANT: 3952v1
Entry
3952v1                      Variant                                
Name
LEP mutation
Type
Loss of function
Gene
LEP  leptin [KO:K05424]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 164160
Network
nt06325  Hormone/cytokine signaling
nt06518  JAK-STAT signaling
Disease
H02059  Leptin deficiency
Reference
  Authors
Ozata M, Ozdemir IC, Licinio J
  Title
Human leptin deficiency caused by a missense mutation: multiple endocrine defects, decreased sympathetic tone, and immune system dysfunction indicate new  targets for leptin action, greater central than peripheral resistance to the  effects of leptin, and spontaneous correction of leptin-mediated defects.
  Journal
J Clin Endocrinol Metab 84:3686-95 (1999)
DOI:10.1210/jcem.84.10.5999
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