2xdg

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.

Evolutionary Conservation

Check, as determined by ConSurfDB. You may read the explanation of the method and the full data available from ConSurf.

References

1. ↑ 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
2. ↑ 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:http://dx.doi.org/10.1210/jcem.84.3.5599
3. ↑ 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