Symbol
| KISS1R
| contributors: mct/npt/shn - updated : 22-01-2015
|
HGNC name
| KISS1 receptor
|
HGNC id
| 4510
|
corresponding disease(s)
|
HHI1
, PPC
|
Other morbid association(s)
|
Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein 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 | |
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) |
|
System | Type | Disorder | Pubmed |
reproduction | fertility | | |
target for therapeutic manipulation of the hypothalamo-pituitary-gonadal HPG axis (for the treatment of women with amenorrhea causing infertility) |
| | |
| 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) |