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Código SKU: PKSH032400_50μg-ES
Proteína humana recombinante MAN1B1 (etiqueta His), 50 μg
La manosil-oligosacárido 1,2-α-manosidasa del retículo endoplasmático (MAN1B1) pertenece a la familia de las glicosil hidrolasas 47. MAB1B1 es una proteína de membrana de un solo paso tipo II, ampliamente expresada en numerosos tejidos. Participa en el control de calidad de las glicoproteínas, dirigiendo su degradación a las mal plegadas. MAB1B1 puede ser inhibida tanto por la 1-desoximanojirimicina (dMNJ) como por la kifunensina. Los defectos en MAN1B1 son la causa del retraso mental autosómico recesivo tipo 15 (MRT15). El retraso mental se caracteriza por un funcionamiento intelectual general significativamente inferior al promedio, se asocia con alteraciones del comportamiento adaptativo y se manifiesta durante el período de desarrollo.
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