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 ofgrowth 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 transcriptionalsplice variants encoding different isoforms have been described, but only two have been characterized to date.[6]
^Kovács M, Schally AV, Zarándi M, Groot K (1997). "Inhibition of GH release of rats by new potent antagonists of growth hormone-releasing hormone (GH-RH)".Peptides.18 (3):431–8.doi:10.1016/S0196-9781(96)00334-8.PMID9145432.S2CID24368945.
Squire J, Zhou A, Hassel BA, Nie H, Silverman RH (Jan 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.PMID7514564.
Hashimoto K, Koga M, Motomura T, Kasayama S, Kouhara H, Ohnishi T, Arita N, Hayakawa T, Sato B, Kishimoto T (Oct 1995). "Identification of alternatively spliced messenger ribonucleic acid encoding truncated growth hormone-releasing hormone receptor in human pituitary adenomas".The Journal of Clinical Endocrinology and Metabolism.80 (10):2933–9.doi:10.1210/jcem.80.10.7559877.PMID7559877.
Tang J, Lagacé G, Castagné J, Collu R (Aug 1995). "Identification of human growth hormone-releasing hormone receptor splicing variants".The Journal of Clinical Endocrinology and Metabolism.80 (8):2381–7.doi:10.1210/jcem.80.8.7629234.PMID7629234.
Gaylinn BD, von Kap-Herr C, Golden WL, Thorner MO (Jan 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.PMID8188233.
Wajnrajch MP, Gertner JM, Harbison MD, Chua SC, Leibel RL (Jan 1996). "Nonsense mutation in the human growth hormone-releasing hormone receptor causes growth failure analogous to the little (lit) mouse".Nature Genetics.12 (1):88–90.doi:10.1038/ng0196-88.PMID8528260.S2CID205341432.
Morel G, Gallego R, Boulanger L, Pintos E, Garcia-Caballero T, Gaudreau P (Aug 1999). "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.PMID10461027.S2CID36622953.
Plonowski A, Schally AV, Busto R, Krupa M, Varga JL, Halmos G (Jun 2002). "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.hdl:2437/127595.PMID12126741.S2CID39613007.