ATP6V0A2

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ATP6V0A2

A gene on chromosome 12q24.31 that encodes a subunit of H+-ATPase (also known as V-ATPase, vacuolar ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles, which is required for an array of molecular processes, including protein sorting, zymogen activation, receptor-mediated endocytosis and synaptic vesicle proton gradient generation.

Molecular pathology
ATP6V0A2 mutations cause cutis laxa type II and wrinkly skin syndrome.
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Una vez en el laboratorio, las muestras fueron centrifugadas a 3.000 g por 10 minutos (Centrifuga Beckman[R] modelo TJ6, Beckman Coulter Inc., Brea, CA, EUA) para la obtencion del suero, el cual fue transferido a microtubos de 1,5 mL debidamente rotulados y almacenados a -20[grados]C (Freezer 420, Consul[R], CFC Free, Brasil) hasta su posterior analisis.