DISEASES

Disease-gene associations mined from literature

Literature associating KISS1R and hypogonadotropic hypogonadism

KISS1R [ENSP00000234371]

G-protein coupled receptor OT7T175; Receptor for metastin (kisspeptin-54 or kp-54), a C- terminally amidated peptide of KiSS1. KiSS1 is a metastasis suppressor protein that suppresses metastases in malignant melanomas and in some breast carcinomas without affecting tumorigenicity. The metastasis suppressor properties may be mediated in part by cell cycle arrest and induction of apoptosis in malignant cells. The receptor is essential for normal gonadotropin-released hormone physiology and for puberty. The hypothalamic KiSS1/KISS1R system is a pivotal factor in central regulation of the gonadotropic axis at puberty and in adulthood. The receptor is also probably involved in the regulation and fine- tuning of trophoblast invasion generated by the trophoblast itself. Analysis of the transduction pathways activated by the receptor identifies coupling to phospholipase C and intracellular calcium release through pertussis toxin-insensitive G(q) proteins.

Synonyms:  KISS1R,  KISS1Rp,  hKISS1R,  K7EQ45,  Q969F8 ...

Linkouts:  STRING  Pharos  UniProt  OMIM