Gene Symbol | GHRH |
Entrez Gene ID | 2691 |
Full Name | growth hormone releasing hormone |
Synonyms | GHRF,GRF,INN |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a member of the glucagon family of proteins. The encoded preproprotein is produced in the hypothalamus and cleaved to generate the mature factor, known as somatoliberin, which acts to stimulate growth hormone release from the pituitary gland. Variant receptors for somatoliberin have been found in several types of tumors, and antagonists of these receptors can inhibit the growth of the tumors. Defects in this gene are a cause of dwarfism, while hypersecretion of the encoded protein is a cause of gigantism. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]. |
Disorder MIM: | |
Disorder Html: | ?Isolated growth hormone deficiency due to defect in GHRF (1); Gigantism due to GHRF hypersecretion (1) |