Código SKU: PKSH033539_10μg-ES

Proteína RNASET2 humana recombinante (células humanas, etiqueta His), 10 μg

La RNASET2 (ribonucleasa T2) es una enzima perteneciente a la familia de las RNasas T2. Presenta una alta expresión en el lóbulo temporal y el cerebro fetal. El gen RNASET2 es un nuevo miembro de la clase de ribonucleasas extracelulares Rh/T2/S-glicoproteína. Esta proteína puede ser inhibida por Zn₂ y Cu₂. Presenta actividad ribonucleasa, con mayor actividad a pH ácido, y probablemente participa en la degradación lisosomal del ARN ribosómico. Los defectos en RNASET2 son la causa de la leucoencefalopatía quística sin megalencefalia, un síndrome de leucoencefalopatía cerebral de inicio infantil. Los recién nacidos afectados desarrollan microcefalia y anomalías neurológicas, como deterioro psicomotor, convulsiones y pérdida auditiva neurosensorial. El cerebro presenta lesiones multifocales en la sustancia blanca, quistes subcorticales en el lóbulo temporal anterior, mielinización anormal periquística, ventriculomegalia y calcificaciones intracraneales.

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