Código SKU: E-AB-53352_20μL-ES

Anticuerpo policlonal XPC, 20 μL

La proteína codificada por este gen es un componente clave del complejo XPC, que desempeña un papel importante en las primeras etapas de la reparación por escisión de nucleótidos (NER) del genoma global. Esta proteína codificada es importante para la detección de daños y la unión al ADN, y muestra preferencia por el ADN monocatenario. Las mutaciones en este gen o en otros componentes de NER pueden provocar xeroderma pigmentoso, un trastorno autosómico recesivo poco común que se caracteriza por una mayor sensibilidad a la luz solar, con el desarrollo de carcinomas a una edad temprana. Se han encontrado variantes de transcripción con empalme alternativo para este gen.

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