Human Gene >> MECP2 Details    

Methyl CpG binding protein 2

construct

Summary

Gene Symbol test MECP2
Gene Name Methyl CpG binding protein 2
Entrez GeneID 4204
UniProt ID P51608
Chromosomal Location Xq28
Alternate Names RTS, RTT, PPMX, MRX16, MRX79, AUTSX3, DKFZp686A24160
Function The encoded protein has methylation-dependent transcriptional repressor activity . It is also involved in regulation of RNA splicing.

Relevance to autism

Support for autism Seconday autism in a subset of individuals with Rett syndrome.
Genetic Category Syndromic autism
Number of studies >10
Number of positive association studies 1
Number of negative association studies 1

References