Código SKU: E-AB-18525_20μL-ES

Anticuerpo policlonal ATXN3, 20 μL

La enfermedad de Machado-Joseph, también conocida como ataxia espinocerebelosa tipo 3, es un trastorno neurológico autosómico dominante. La proteína codificada por este gen contiene repeticiones (CAG)n en la región codificante, y la expansión de estas repeticiones del rango normal de 12-44 a 52-86 es una de las causas de la enfermedad de Machado-Joseph. Existe una correlación negativa entre la edad de inicio y el número de repeticiones CAG. Se han descrito variantes de transcripción con empalme alternativo que codifican diferentes isoformas para este gen.

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