LP33049-5
MECP2 gene
Active
Description
The MECP2 gene (methyl CpG binding protein 2) [HGNC Gene ID:6990] is located on chromosome Xq28. DNA methylation is the major modification of eukaryotic genomes and plays an essential role in mammalian development. Human proteins MECP2, MBD1, MBD2, MBD3, and MBD4 comprise a family of nuclear proteins related by the presence in each of a methyl-CpG binding domain (MBD). Each of these proteins, with the exception of MBD3, is capable of binding specifically to methylated DNA. MECP2, MBD1 and MBD2 can also repress transcription from methylated gene promoters. In contrast to other MBD family members, MECP2 is X-linked and subject to X inactivation. MECP2 is dispensible in stem cells, but is essential for embryonic development. 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. [provided by RefSeq, Jul 2009] [NCBI Gene ID:4204] Source: National Center for Biotechnology Information (NCBI) Gene
Reference Information
| Type | Source | Reference |
|---|---|---|
| Webcontent | Online Mendelian Inheritance in Man®Copyright OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University. | Link to OMIM |
Basic Part Properties
- Part Display Name
- MECP2 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2003-12-16
- Construct for LOINC Short Name
- MECP2 gene
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | MECP2 基因 Synonyms: MeCP-2 蛋白基因; |
| et-EE | Estonian (Estonia) | MECP2 geen |
| es-ES | Spanish (Spain) | gen MECP2 |
| it-IT | Italian (Italy) | MECP2, gene Synonyms: Gene MECP2 |
| tr-TR | Turkish (Turkey) | MECP2 geni |
| ru-RU | Russian (Russian Federation) | MECP2 ген |
| nl-NL | Dutch (Netherlands) | MECP2-gen Synonyms: MECP2 gen |
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