| Structural highlights
Disease
GHRHR_HUMAN Isolated growth hormone deficiency type IB. The disease is caused by mutations affecting the gene represented in this entry.[1] [2] [3]
Function
GHRHR_HUMAN Receptor for GRF, coupled to G proteins which activate adenylyl cyclase. Stimulates somatotroph cell growth, growth hormone gene transcription and growth hormone secretion.
References
- ↑ Salvatori R, Fan X, Phillips JA 3rd, Espigares-Martin R, Martin De Lara I, Freeman KL, Plotnick L, Al-Ashwal A, Levine MA. 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. 2001 Jan;86(1):273-9. PMID:11232012
- ↑ Salvatori R, Hayashida CY, Aguiar-Oliveira MH, Phillips JA 3rd, Souza AH, Gondo RG, Toledo SP, Conceicao MM, Prince M, Maheshwari HG, Baumann G, Levine MA. Familial dwarfism due to a novel mutation of the growth hormone-releasing hormone receptor gene. J Clin Endocrinol Metab. 1999 Mar;84(3):917-23. PMID:10084571 doi:https://dx.doi.org/10.1210/jcem.84.3.5599
- ↑ Carakushansky M, Whatmore AJ, Clayton PE, Shalet SM, Gleeson HK, Price DA, Levine MA, Salvatori R. A new missense mutation in the growth hormone-releasing hormone receptor gene in familial isolated GH deficiency. Eur J Endocrinol. 2003 Jan;148(1):25-30. PMID:12534354
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