Código SKU: E-AB-19899_20μL-ES

Anticuerpo policlonal GBA, 20 μL

Este gen codifica una proteína de membrana lisosomal que escinde el enlace beta-glucosídico de la glicosilceramida, un intermediario en el metabolismo de los glucolípidos. Las mutaciones en este gen causan la enfermedad de Gaucher, una enfermedad de almacenamiento lisosomal caracterizada por la acumulación de glucocerebrósidos. Un pseudogén relacionado se encuentra aproximadamente 12 kb aguas abajo de este gen en el cromosoma 1. El empalme alternativo produce múltiples variantes de transcripción.

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