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FLASH GENE
Symbol KISS1R contributors: mct/npt/shn - updated : 22-01-2015
HGNC name KISS1 receptor
HGNC id 4510
ASSOCIATED DISORDERS
corresponding disease(s) HHI1 , PPC
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional     --over  
potently stimulates LH release in the preovulatory phase and provides a novel mechanism for manipulation of the hypothalamo-pituitary-gonadal (HPG) axis in women
constitutional germinal mutation      
activating mutation in a patient with central precocious puberty
constitutional     --over  
because promoter is unmethylated in atypical endometrial hyperplasia (AEH)
tumoral     --over  
KISS1/KISS1R expression was found to be significantly higher in breast cancer compared to non-malignant mammary tissues
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target target for therapeutic manipulation of the hypothalamo-pituitary-gonadal HPG axis (for the treatment of women with amenorrhea causing infertility)
SystemTypeDisorderPubmed
reproductionfertility 
target for therapeutic manipulation of the hypothalamo-pituitary-gonadal HPG axis (for the treatment of women with amenorrhea causing infertility)
ANIMAL & CELL MODELS
  • defective negative feedback in global Gpr54-null mice that cannot be attributed to a lack of prior exposure of the GnRH neuronal network to cyclical estradiol3)