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Growth hormone releasing hormone receptor
Identifiers
Symbols GHRHR; GHRFR; GHRHRpsv; GRFR
External IDs OMIM139191 MGI95710 HomoloGene640 IUPHAR: GHRH GeneCards: GHRHR Gene
RNA expression pattern
PBB GE GHRHR 207825 s at tn.png
PBB GE GHRHR 211544 s at tn.png
PBB GE GHRHR 211545 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 2692 14602
Ensembl ENSG00000106128 ENSMUSG00000004654
UniProt Q02643 Q0VB62
RefSeq (mRNA) NM_000823 NM_001003685
RefSeq (protein) NP_000814 NP_001003685
Location (UCSC) Chr 7:
30.97 - 30.99 Mb
Chr 6:
55.31 - 55.32 Mb
PubMed search [1] [2]

The growth hormone releasing hormone receptor (GHRHR) is a G-protein coupled receptor which binds growth hormone releasing hormone.[1]

This gene, expressed in the pituitary, 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. Many alternate transcriptional splice variants encoding different isoforms have been described, but only two have been characterized to date.[2]

References

  1. ^ Gaylinn BD (2002). "Growth hormone releasing hormone receptor". Recept. Channels 8 (3-4): 155–62. doi:10.1080/10606820213679. PMID 12529933.  
  2. ^ "Entrez Gene: GHRHR growth hormone releasing hormone receptor". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2692.  

Further reading

  • Gaylinn BD (1999). "Molecular and cell biology of the growth hormone-releasing hormone receptor.". Growth Horm. IGF Res. 9 Suppl A: 37–44. doi:10.1016/S1096-6374(99)80008-2. PMID 10429879.  
  • Lin-Su K, Wajnrajch MP (2003). "Growth Hormone Releasing Hormone (GHRH) and the GHRH Receptor.". Reviews in endocrine & metabolic disorders 3 (4): 313–23. doi:10.1023/A:1020949507265. PMID 12424433.  
  • Mayo KE (1992). "Molecular cloning and expression of a pituitary-specific receptor for growth hormone-releasing hormone.". Mol. Endocrinol. 6 (10): 1734–44. doi:10.1210/me.6.10.1734. PMID 1333056.  
  • Squire J, Zhou A, Hassel BA, et al. (1994). "Localization of the interferon-induced, 2-5A-dependent RNase gene (RNS4) to human chromosome 1q25.". Genomics 19 (1): 174–5. doi:10.1006/geno.1994.1033. PMID 7514564.  
  • Hashimoto K, Koga M, Motomura T, et al. (1995). "Identification of alternatively spliced messenger ribonucleic acid encoding truncated growth hormone-releasing hormone receptor in human pituitary adenomas.". J. Clin. Endocrinol. Metab. 80 (10): 2933–9. doi:10.1210/jc.80.10.2933. PMID 7559877.  
  • Tang J, Lagacé G, Castagné J, Collu R (1995). "Identification of human growth hormone-releasing hormone receptor splicing variants.". J. Clin. Endocrinol. Metab. 80 (8): 2381–7. doi:10.1210/jc.80.8.2381. PMID 7629234.  
  • Gaylinn BD, Harrison JK, Zysk JR, et al. (1993). "Molecular cloning and expression of a human anterior pituitary receptor for growth hormone-releasing hormone.". Mol. Endocrinol. 7 (1): 77–84. doi:10.1210/me.7.1.77. PMID 7680413.  
  • Gaylinn BD, von Kap-Herr C, Golden WL, Thorner MO (1994). "Assignment of the human growth hormone-releasing hormone receptor gene (GHRHR) to 7p14 by in situ hybridization.". Genomics 19 (1): 193–5. doi:10.1006/geno.1994.1045. PMID 8188233.  
  • Wajnrajch MP, Gertner JM, Harbison MD, et al. (1996). "Nonsense mutation in the human growth hormone-releasing hormone receptor causes growth failure analogous to the little (lit) mouse.". Nat. Genet. 12 (1): 88–90. doi:10.1038/ng0196-88. PMID 8528260.  
  • Netchine I, Talon P, Dastot F, et al. (1998). "Extensive phenotypic analysis of a family with growth hormone (GH) deficiency caused by a mutation in the GH-releasing hormone receptor gene.". J. Clin. Endocrinol. Metab. 83 (2): 432–6. doi:10.1210/jc.83.2.432. PMID 9467553.  
  • Petersenn S, Rasch AC, Heyens M, Schulte HM (1998). "Structure and regulation of the human growth hormone-releasing hormone receptor gene.". Mol. Endocrinol. 12 (2): 233–47. doi:10.1210/me.12.2.233. PMID 9482665.  
  • Maheshwari HG, Silverman BL, Dupuis J, Baumann G (1998). "Phenotype and genetic analysis of a syndrome caused by an inactivating mutation in the growth hormone-releasing hormone receptor: Dwarfism of Sindh.". J. Clin. Endocrinol. Metab. 83 (11): 4065–74. doi:10.1210/jc.83.11.4065. PMID 9814493.  
  • Salvatori R, Hayashida CY, Aguiar-Oliveira MH, et al. (1999). "Familial dwarfism due to a novel mutation of the growth hormone-releasing hormone receptor gene.". J. Clin. Endocrinol. Metab. 84 (3): 917–23. doi:10.1210/jc.84.3.917. PMID 10084571.  
  • Morel G, Gallego R, Boulanger L, et al. (2000). "Restricted presence of the growth hormone-releasing hormone receptor to somatotropes in rat and human pituitaries.". Neuroendocrinology 70 (2): 128–36. doi:10.1159/000054467. PMID 10461027.  
  • Rekasi Z, Czompoly T, Schally AV, Halmos G (2000). "Isolation and sequencing of cDNAs for splice variants of growth hormone-releasing hormone receptors from human cancers.". Proc. Natl. Acad. Sci. U.S.A. 97 (19): 10561–6. doi:10.1073/pnas.180313297. PMID 10962031.  
  • Salvatori R, Fan X, Phillips JA, et al. (2001). "Three new mutations in the gene for the growth hormone (gh)-releasing hormone receptor in familial isolated gh deficiency type ib.". J. Clin. Endocrinol. Metab. 86 (1): 273–9. doi:10.1210/jc.86.1.273. PMID 11232012.  
  • Kiaris H, Schally AV, Busto R, et al. (2002). "Expression of a splice variant of the receptor for GHRH in 3T3 fibroblasts activates cell proliferation responses to GHRH analogs.". Proc. Natl. Acad. Sci. U.S.A. 99 (1): 196–200. doi:10.1073/pnas.012590999. PMID 11773624.  
  • Salvatori R, Fan X, Mullis PE, et al. (2002). "Decreased expression of the GHRH receptor gene due to a mutation in a Pit-1 binding site.". Mol. Endocrinol. 16 (3): 450–8. doi:10.1210/me.16.3.450. PMID 11875102.  
  • Plonowski A, Schally AV, Busto R, et al. (2003). "Expression of growth hormone-releasing hormone (GHRH) and splice variants of GHRH receptors in human experimental prostate cancers.". Peptides 23 (6): 1127–33. doi:10.1016/S0196-9781(02)00043-8. PMID 12126741.  

External links

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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