Aliases for GHRHR Gene
External Ids for GHRHR Gene
Previous GeneCards Identifiers for GHRHR Gene
This gene 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. [provided by RefSeq, Jun 2010]
GeneCards Summary for GHRHR Gene
GHRHR (Growth Hormone Releasing Hormone Receptor) is a Protein Coding gene. Diseases associated with GHRHR include Growth Hormone Deficiency, Isolated, Type Ib and Isolated Growth Hormone Deficiency, Type Ib, Ghrhr-Related. Among its related pathways are Presynaptic function of Kainate receptors and Signaling by GPCR. GO annotations related to this gene include G-protein coupled receptor activity and peptide hormone binding. An important paralog of this gene is MGC57346-CRHR1.
UniProtKB/Swiss-Prot for GHRHR Gene
Receptor for GRF, coupled to G proteins which activate adenylyl cyclase. Stimulates somatotroph cell growth, growth hormone gene transcription and growth hormone secretion.