Loss of the C terminus of melanocortin receptor 2 (MC2R) results in impaired cell surface expression and ACTH insensitivity

Hirsch, Andrea; Meimaridou, Eirini; Fernandez-Cancio, Monica; Pandey, Amit V; Clemente, María; Audi, Laura; Clark, Adrian J L; Flück, Christa E (2011). Loss of the C terminus of melanocortin receptor 2 (MC2R) results in impaired cell surface expression and ACTH insensitivity. Journal of clinical endocrinology and metabolism, 96(1), E65-72. Chevy Chase, Md.: Endocrine Society 10.1210/jc.2010-1056

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Mutations in melanocortin receptor 2 (MC2R) and its related melanocortin receptor accessory protein (MRAP) cause familial glucocorticoid deficiency. We identified a novel MC2R mutation, K289fs. This unique mutation in the C terminus of MC2R is located in the intracellular part of the protein for which the exact function is unknown.

Item Type:

Journal Article (Original Article)

Division/Institute:

04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Paediatric Medicine

UniBE Contributor:

Hirsch, Andrea; Pandey, Amit Vikram and Flück, Christa

ISSN:

0021-972X

Publisher:

Endocrine Society

Language:

English

Submitter:

Factscience Import

Date Deposited:

04 Oct 2013 14:13

Last Modified:

06 Dec 2013 13:22

Publisher DOI:

10.1210/jc.2010-1056

PubMed ID:

20962024

Web of Science ID:

000288185400008

URI:

https://boris.unibe.ch/id/eprint/2819 (FactScience: 205736)

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