Article
Natural mutations of the anti-Mullerian hormone type II receptor found in persistent Mullerian duct syndrome affect ligand binding, signal transduction and cellular transport.
Human molecular genetics - 15 Aug 2009
Belville Corinne, Maréchal Jean-Didier, Pennetier Sophie, Carmillo Paul, Masgrau Laura, Messika-Zeitoun Liza, Galey Julie, Machado Gabrielle, Treton Dominique, Gonzalès Jacques, Picard Jean-Yves, Josso Nathalie, Cate Richard L, di Clemente Nathalie
Abstract excerpt
The anti-Müllerian hormone type II (AMHRII) receptor is the primary receptor for anti-Müllerian hormone (AMH), a protein produced by Sertoli cells and responsible for the regression of the Müllerian duct in males. AMHRII is a membrane protein containing an N-terminal extracellular domain (ECD) that binds AMH, a transmembrane domain, and an intracellular domain with serine/threonine kinase activity. Mutations in...
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