Código SKU: PKSH032165_50μg-ES

Proteína anhidrasa carbónica humana recombinante 8/CA8 (etiqueta His), 50 μg

La anhidrasa carbónica 8 (CA8) pertenece a la familia de las alfa-anhidrasas carbónicas. Esta familia de metaloenzimas de zinc cataliza la hidratación reversible del dióxido de carbono. Debido a la similitud de secuencia de la CA8 con otros genes conocidos de anhidrasa carbónica, inicialmente se la denominó proteína relacionada con la CA. Sin embargo, la CA8 no posee actividad catalítica de la anhidrasa carbónica. Los defectos en la CA8 son la causa del síndrome de ataxia cerebelosa, retraso mental y desequilibrio tipo 3 (CMARQ3), una ataxia cerebelosa congénita asociada con disartria, marcha cuadrúpeda y retraso mental leve.

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