Article
MeCP2 mutant protein is expressed in astrocytes as well as in neurons and localizes in the nucleus.
Cytogenetic and genome research - 1 Jan 2010
Kifayathullah L A, Arunachalam J P, Bodda C, Agbemenyah H Y, Laccone F A, Mannan A U
Abstract excerpt
The MECP2 gene, located at Xq28, encodes methyl-CpG-binding protein 2 (MeCP2), which is frequently mutated (up to 90%) in Rett syndrome (RTT). RTT is a progressive neurodevelopmental disorder, which affects primarily girls during early childhood and it is one of the most common causes of mental retardation in females. R270X is one of the most frequent recurrent MECP2 mutations among RTT cohorts. The R270X...
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