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Article

Paradoxical gain-of-function mutant of the G-protein-coupled receptor PROKR2 promotes early puberty.

Journal of cellular and molecular medicine - 1 Oct 2017

Fukami Maki, Suzuki Erina, Izumi Yoko, Torii Tomohiro, Narumi Satoshi, Igarashi Maki, Miyado Mami, Katsumi Momori, Fujisawa Yasuko, Nakabayashi Kazuhiko, Hata Kenichiro, Umezawa Akihiro, Matsubara Yoichi, Yamauchi Junji, Ogata Tsutomu

Abstract excerpt

The human genome encodes ~750 G-protein-coupled receptors (GPCRs), including prokineticin receptor 2 (PROKR2) involved in the regulation of sexual maturation. Previously reported pathogenic gain-of-function mutations of GPCR genes invariably encoded aberrant receptors with excessive signal transduction activity. Although in vitro assays demonstrated that an artificially created inactive mutant of PROKR2 exerted...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 28338294
DOI: 10.1111/jcmm.13146
PMCID: PMC5618689

Genes

PROKR2

Provenance

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Paradoxical gain-of-function mutant of the G-protein-coupled receptor PROKR2 promotes early puberty.PMID 28338294Read ↗

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