Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

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

external link
2.

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

external link
3.

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

external link
4.

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

external link
5.

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

external link
6.

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

external link
7.

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

external link
8.

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

external link
9.

Orphanet article

Orphanet ID 201252 external link
10.

NCBI article

NCBI 2693 external link
11.

OMIM.ORG article

Omim 601898 external link
12.

Wikipedia article

Wikipedia EN (Growth_hormone_secretagogue_receptor) external link
Update: Aug. 14, 2020
Copyright © 2005-2020 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues