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Código SKU: PDEH100526_100μg-ES
Proteína LMNA humana recombinante (etiqueta Gst), 100 μg
La lámina nuclear consiste en una matriz bidimensional de proteínas ubicada junto a la membrana nuclear interna. La familia de proteínas lamin conforma la matriz y se conserva altamente a lo largo de la evolución. Durante la mitosis, la matriz laminosa se desmonta reversiblemente a medida que las proteínas laminosas se fosforilan. Se cree que las proteínas laminosas intervienen en la estabilidad nuclear, la estructura de la cromatina y la expresión génica. Las láminas de vertebrados constan de dos tipos: A y B. El empalme alternativo produce múltiples variantes de transcripción. Las mutaciones en este gen provocan diversas enfermedades: distrofia muscular de Emery-Dreifuss, lipodistrofia parcial familiar, distrofia muscular de cinturas, miocardiopatía dilatada, enfermedad de Charcot-Marie-Tooth y síndrome de progeria de Hutchinson-Gilford.
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