MECP2
From SNPedia
| is a | gene |
| is | mentioned by |
| Full name | methyl CpG binding protein 2 |
| EntrezGene | 4204 |
| PheGenI | 4204 |
| VariationViewer | 4204 |
| ClinVar | MECP2 |
| GeneCards | MECP2 |
| dbSNP | 4204 |
| Diseases | MECP2 |
| SADR | 4204 |
| HugeNav | 4204 |
| wikipedia | MECP2 |
| MECP2 | |
| gopubmed | MECP2 |
| EVS | MECP2 |
| HEFalMp | MECP2 |
| MyGene2 | MECP2 |
| 23andMe | MECP2 |
| UniProt | P51608 |
| Ensembl | ENSG00000169057 |
| OMIM | 300005 |
| # SNPs | 338 |
Located on the X chromosome, the MECP2 (methyl CpG binding protein 2 (Rett syndrome)) gene encodes the MECP2 protein. This protein appears to be essential for the normal function of nerve cells. MECP2 gene mutations are the cause of most cases of Rett syndrome, a progressive neurologic developmental disorder and one of the most common causes of mental retardation in females. Mutations in the MECP2 gene have also been linked to other forms of mental retardation, as well as Angelman syndrome, SLE, and potentially, autism.Wikipedia
