Disease-causing Mutation in GPR54 Reveals the Importance of the Second Intracellular Loop for Class A G-protein-coupled Receptor Function

The G-protein-coupled receptor (GPCR) GPR54 is essential for the development and maintenance of reproductive function in mammals. A point mutation (L148S) in the second intracellular loop (IL2) of GPR54 causes idiopathic hypogonadotropic hypogonadism, a disorder characterized by delayed puberty and...

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Detalhes bibliográficos
Main Authors: Wacker, Jennifer L., Feller, David B., Tang, Xiao-Bo, DeFino, Mia C., Namkung, Yuree, Lyssand, John S., Mhyre, Andrew J., Tan, Xu, Jensen, Jill B., Hague, Chris
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Biochemistry and Molecular Biology 2008
Assuntos:
Mechanisms of Signal Transduction
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2576551/
https://ncbi.nlm.nih.gov/pubmed/18772143
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M805251200
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