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Código SKU: E-AB-53204_200μL-ES
Anticuerpo policlonal VMA21, 200 μL
Este gen codifica una chaperona para el ensamblaje de la ATPasa vacuolar lisosomal. Es necesario para el ensamblaje del complejo V0 de la ATPasa vacuolar (V-ATPasa) en el retículo endoplasmático. Se asocia con el complejo V0 de la ATPasa vacuolar (V-ATPasa). La MEAX es una enfermedad de inicio en la infancia que se caracteriza por vacuolización progresiva y atrofia del músculo esquelético. Se hereda de forma recesiva y afecta a niños varones, pero no a mujeres portadoras. La enfermedad se presenta en la infancia y los pacientes presentan debilidad en los músculos proximales de las extremidades inferiores, que progresa lentamente hasta afectar a otros grupos musculares esqueléticos con el tiempo.
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