Gene Symbol | GHRHR |
Entrez Gene ID | 2692 |
Full Name | growth hormone releasing hormone receptor |
Synonyms | GHRFR,GRFR,IGHD1B |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Growth hormone deficiency, isolated, type IB, 612781 (3) |