Growth-hormone-releasing hormone receptor

The GHRHR activates a Gs protein that causes a cascade of cAMP via adenylate cyclase.

This gene, expressed in the pituitary, encodes a receptor for growth-hormone-releasing 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.

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