KISS1 Chromosome 1

KiSS-1 metastasis suppressor
2 variants 2 Health Risk

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What This Gene Does
This gene is a metastasis suppressor gene that suppresses metastases of melanomas and breast carcinomas without affecting tumorigenicity. The encoded protein may inhibit chemotaxis and invasion and thereby attenuate metastasis in malignant melanomas. Studies suggest a putative role in the regulation of events downstream of cell-matrix adhesion, perhaps involving cytoskeletal reorganization. A protein product of this gene, kisspeptin, stimulates gonadotropin-releasing hormone (GnRH)-induced gonadotropin secretion and regulates the pubertal activation of GnRH neurons. A polymorphism in the terminal exon of this mRNA results in two protein isoforms. An adenosine present at the polymorphic site represents the third position in a stop codon. When the adenosine is absent, a downstream stop codon is utilized and the encoded protein extends for an additional seven amino acid residues. [provided by RefSeq, Jun 2022]
Gene Info
Gene Group
Neuropeptides
Locus Type
gene with protein product
Location
1q32.1
Ensembl
ENSG00000170498
Associated Conditions (1)
Hypogonadotropic hypogonadism 13 with or without anosmia
Key Variants
All Variants (2)
RSID Category Clinical Significance Conditions
RS752056340 Health Risk Conflicting classifications of pathogenicity
RS587777835 Health Risk Pathogenic Hypogonadotropic hypogonadism 13 with or without anosmia, Hypogonadotropic hypogonadism 13 with or without anosmia
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