KISS1R KISS1 receptor
Gene ID: 84634, updated on 10-Dec-2024Gene type: protein coding
Also known as: HH8; CPPB1; GPR54; AXOR12; KISS-1R; HOT7T175
- See all available tests in GTR for this gene
- Go to complete Gene record for KISS1R
- Go to Variation Viewer for KISS1R variants
Summary
The protein encoded by this gene is a galanin-like G protein-coupled receptor that binds metastin, a peptide encoded by the metastasis suppressor gene KISS1. The tissue distribution of the expressed gene suggests that it is involved in the regulation of endocrine function, and this is supported by the finding that this gene appears to play a role in the onset of puberty. Mutations in this gene have been associated with hypogonadotropic hypogonadism and central precocious puberty. [provided by RefSeq, Jul 2008]
Associated conditions
Genomic context
- Location:
- 19p13.3
- Sequence:
- Chromosome: 19; NC_000019.10 (917333..921005)
- Total number of exons:
- 4
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for KISS1R variants |
Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- KISS1R database
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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