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.[6]
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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.
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