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Código SKU: E-AB-66188_120μL-ES
Anticuerpo policlonal G6PD, 120 μL
Este gen codifica la glucosa-6-fosfato deshidrogenasa. Esta proteína es una enzima citosólica codificada por un gen constitutivo ligado al cromosoma X, cuya función principal es producir NADPH, un donador de electrones clave en la defensa contra agentes oxidantes y en reacciones biosintéticas reductoras. La G6PD destaca por su diversidad genética. Se han descrito numerosas variantes de la G6PD, principalmente producidas por mutaciones sin sentido, con amplios niveles de actividad enzimática y síntomas clínicos asociados. La deficiencia de G6PD puede causar ictericia neonatal, hemólisis aguda o anemia hemolítica no esferocítica crónica grave. Se han encontrado dos variantes de transcripción que codifican diferentes isoformas para este gen.
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