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Human Gene >> MECP2 Details
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Methyl CpG binding protein 2 |
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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 |
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