Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Growth hormone secretagogue receptor

The GHSR gene encodes a G-protein coupled receptor which regulates growth hormone secretion in response to several secretagogues, most important is ghrelin a gastric hormone, which regulates growth depending on food intake. Mutations cause GSH resistance, a genetic disorder that shows variable types of inheritance and variable penetrance.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Growth hormone secretagogue resistance
GHSR

References:

1.

Kaji H et al. (2001) Hormonal regulation of the human ghrelin receptor gene transcription.

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2.

García A et al. (2001) Regulation of Pit-1 expression by ghrelin and GHRP-6 through the GH secretagogue receptor.

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3.

Dixit VD et al. (2004) Ghrelin inhibits leptin- and activation-induced proinflammatory cytokine expression by human monocytes and T cells.

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4.

Zigman JM et al. (2005) Mice lacking ghrelin receptors resist the development of diet-induced obesity.

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5.

Pantel J et al. (2006) Loss of constitutive activity of the growth hormone secretagogue receptor in familial short stature.

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6.

Pantel J et al. (2009) Recessive isolated growth hormone deficiency and mutations in the ghrelin receptor.

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7.

Howard AD et al. (1996) A receptor in pituitary and hypothalamus that functions in growth hormone release.

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8.

McKee KK et al. (1997) Molecular analysis of rat pituitary and hypothalamic growth hormone secretagogue receptors.

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Update: Sept. 26, 2018