APOA5 mutaciones en el gen APOA5 Referencias Enlaces externos Menú de navegaciónGenome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markerssus editores

Proteínas


apolipoproteínatriglicéridosLipoproteínas de alta densidadlipoproteínas de muy baja densidadquilomicronesmutación de cambio de sentidoCerdeña




La Apolipoproteína A-V, APOA5 o Apo AV es una proteína que en los humanos es sintetizada a partir del gen APOA5. Al ser una apolipoproteína su función principal es la de contener y transportar lípidos a través de la sangre, además de ser un factor determinante de los niveles de triglicéridos en el plasma sanguíneo, considerados un factor independiente de riesgo vascular. Es un componente de varios tipos de lipoproteínas como las Lipoproteínas de alta densidad (HDL), las lipoproteínas de muy baja densidad (VLDL) y los quilomicrones.


Se cree que la APOA5 afecta al metabolismo de las lipoproteinas mediante la interacción con los receptores de la familia de genes LDL-R.



mutaciones en el gen APOA5


Un estudio reciente ha mostrado la asociación de la mutación de cambio de sentido Arg282Ser en el gen APOA5 con una disminución en los niveles plasmáticos de triglicéridos en la población de Cerdeña.[1]​



Referencias


  • http://www.redotriandalucia.es/patentes/conjunto-de-cebadores-sondas-procedimiento-y-kit-p/

  • http://www.nature.com/ng/journal/v47/n11/full/ng.3368.html/


  1. ↑ Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers



Enlaces externos




  • Esta obra contiene una traducción parcial derivada de APOA5 de Wikipedia en inglés, publicada por sus editores bajo la Licencia de documentación libre de GNU y la Licencia Creative Commons Atribución-CompartirIgual 3.0 Unported.


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