Article
Lack of the human choline transporter-like protein SLC44A2 causes hearing impairment and a rare red blood phenotype.
EMBO molecular medicine - 8 Mar 2023
Koehl Bérengère, Vrignaud Cédric, Mikdar Mahmoud, Nair Thankam S, Yang Lucy, Landry Seyve, Laiguillon Guy, Giroux-Lathuile Claudine, Anselme-Martin Sophie, El Kenz Hanane, Hermine Olivier, Mohandas Narla, Cartron Jean Pierre, Colin Yves, Detante Olivier, Marlu Raphaël, Le Van Kim Caroline, Carey Thomas E, Azouzi Slim, Peyrard Thierry
Abstract excerpt
Blood phenotypes are defined by the presence or absence of specific blood group antigens at the red blood cell (RBC) surface, due to genetic polymorphisms among individuals. The recent development of genomic and proteomic approaches enabled the characterization of several enigmatic antigens. The choline transporter-like protein CTL2 encoded by the SLC44A2 gene plays an important role in platelet aggregation and...
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