KEGG   VARIANT: 3814v1
Entry
3814v1                      Variant                                

Name
KISS1 mutation
Gene
KISS1  KiSS-1 metastasis suppressor [KO:K23140]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 603286
Network
nt06323  KISS1-GnRH-LH/FSH-E2 signaling
nt06361  Hypogonadotropic hypogonadism
  Element
N00870  Mutation-inactivated KISS1 to KISS1-KISS1R-PLCB-PKC signaling pathway
Reference
  Authors
Topaloglu AK, Tello JA, Kotan LD, Ozbek MN, Yilmaz MB, Erdogan S, Gurbuz F, Temiz F, Millar RP, Yuksel B
  Title
Inactivating KISS1 mutation and hypogonadotropic hypogonadism.
  Journal
N Engl J Med 366:629-35 (2012)
DOI:10.1056/NEJMoa1111184
LinkDB

DBGET integrated database retrieval system