GHRL Chromosome 3

Ghrelin and obestatin prepropeptide
2 variants 2 Health Risk

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What This Gene Does
This gene encodes the ghrelin-obestatin preproprotein that is cleaved to yield two peptides, ghrelin and obestatin. Ghrelin is a powerful appetite stimulant and plays an important role in energy homeostasis. Its secretion is initiated when the stomach is empty, whereupon it binds to the growth hormone secretagogue receptor in the hypothalamus which results in the secretion of growth hormone (somatotropin). Ghrelin is thought to regulate multiple activities, including hunger, reward perception via the mesolimbic pathway, gastric acid secretion, gastrointestinal motility, and pancreatic glucose-stimulated insulin secretion. It was initially proposed that obestatin plays an opposing role to ghrelin by promoting satiety and thus decreasing food intake, but this action is still debated. Recent reports suggest multiple metabolic roles for obestatin, including regulating adipocyte function and glucose metabolism. Alternative splicing results in multiple transcript variants. In addition, antisense transcripts for this gene have been identified and may potentially regulate ghrelin-obestatin preproprotein expression. [provided by RefSeq, Nov 2014]
Gene Info
Gene Group
Neuropeptides
Locus Type
gene with protein product
Location
3p25.3
Ensembl
ENSG00000157017
Associated Conditions (5)
Metabolic syndrome
susceptibility to
Obesity
age at onset of
Inherited obesity
Key Variants
All Variants (2)
RSID Category Clinical Significance Conditions
RS696217 Health Risk Conflicting classifications of pathogenicity Metabolic syndrome, susceptibility to, Obesity
RS34911341 Health Risk risk factor Metabolic syndrome, susceptibility to, Obesity
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