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Pathophysiology of melanocortin receptors and their accessory proteins.

Novoselova, TV; Chan, LF; Clark, AJL (2018) Pathophysiology of melanocortin receptors and their accessory proteins. Best Pract Res Clin Endocrinol Metab, 32 (2). pp. 93-106. ISSN 1878-1594 https://doi.org/10.1016/j.beem.2018.02.002
SGUL Authors: Clark, Adrian John L

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Abstract

The melanocortin receptors (MCRs) and their accessory proteins (MRAPs) are involved in regulation of a diverse range of endocrine pathways. Genetic variants of these components result in phenotypic variation and disease. The MC1R is expressed in skin and variants in the MC1R gene are associated with ginger hair color. The MC2R mediates the action of ACTH in the adrenal gland to stimulate glucocorticoid production and MC2R mutations result in familial glucocorticoid deficiency (FGD). MC3R and MC4R are involved in metabolic regulation and their gene variants are associated with severe pediatric obesity, whereas the function of MC5R remains to be fully elucidated. MRAPs have been shown to modulate the function of MCRs and genetic variants in MRAPs are associated with diseases including FGD type 2 and potentially early onset obesity. This review provides an insight into recent advances in MCRs and MRAPs physiology, focusing on the disorders associated with their dysfunction.

Item Type: Article
Additional Information: © 2018. This manuscript version is made available under the CC-BY-NC-ND 4.0 license http://creativecommons.org/licenses/by-nc-nd/4.0/
Keywords: accessory proteins, adrenal gland, melanocortin, melanocortin receptors, metabolism, obesity
SGUL Research Institute / Research Centre: Academic Structure > Infection and Immunity Research Institute (INII)
Journal or Publication Title: Best Pract Res Clin Endocrinol Metab
ISSN: 1878-1594
Language: eng
Dates:
DateEvent
April 2018Published
9 February 2018Published Online
Publisher License: Creative Commons: Attribution-Noncommercial-No Derivative Works 4.0
Projects:
Project IDFunderFunder ID
G0802796Medical Research Councilhttp://dx.doi.org/10.13039/501100000265
PubMed ID: 29678289
Go to PubMed abstract
URI: https://openaccess.sgul.ac.uk/id/eprint/109776
Publisher's version: https://doi.org/10.1016/j.beem.2018.02.002

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