GHRHR growth hormone releasing hormone receptor
Gene ID: 2692, updated on 2-Nov-2024Gene type: protein coding
Also known as: GRFR; GHRFR; IGHD4; IGHD1B
- See all available tests in GTR for this gene
- Go to complete Gene record for GHRHR
- Go to Variation Viewer for GHRHR variants
Summary
This gene encodes a receptor for growth hormone-releasing hormone. Binding of this hormone to the receptor leads to synthesis and release of growth hormone. Mutations in this gene have been associated with isolated growth hormone deficiency (IGHD), also known as Dwarfism of Sindh, a disorder characterized by short stature. [provided by RefSeq, Jun 2010]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Isolated growth hormone deficiency, type 4 | See labs |
Genomic context
- Location:
- 7p14.3
- Sequence:
- Chromosome: 7; NC_000007.14 (30963953..30979528)
- Total number of exons:
- 13
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for GHRHR variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- GHRHR 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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