35137-9
MECP2 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
Active
Part Description
LP33049-5 MECP2 gene
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
Fully-Specified Name
- Component
- MECP2 gene targeted mutation analysis
- Property
- Prid
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- MECP2 gene Mut Anl Bld/T
- Display Name
- MECP2 gene targeted mutation analysis Molgen Nom (Bld/Tiss)
- Consumer Name Alpha Get Info
- MECP2 gene targeted mutation analysis, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 2.11
- Last Updated
- Version 2.73
- Change Reason
- Based on LOINC Committee review (June 2016), "targeted" was added to the Component to clarify that this test is looking for a specific set of mutations as described in the LOINC User Guide under the Molecular Genetics section.
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 12234
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-AR | Spanish (Argentina) | gen MECP2: |
| es-ES | Spanish (Spain) | gen MECP2 Analisis de mutaciones: |
| es-MX | Spanish (Mexico) | Análisis de mutaciones dirigidas al gen MECP2: |
| fr-FR | French (France) | MECP2 gène mutation cible trouvée: |
| it-IT | Italian (Italy) | MECP2, gene analisi di mutazione mirata: Synonyms: Gene MECP2 Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| ko-KR | Korean (Korea, Republic Of) | MECP2 유전자 돌연변이 분석: |
| nl-NL | Dutch (Netherlands) | MECP2-gen doelgerichte mutatie-analyse: Synonyms: MECP2 gen molgen targeted |
| pt-BR | Portuguese (Brazil) | MECP2 análise de mutação genética: Synonyms: MRX16; |
| ru-RU | Russian (Russian Federation) | MECP2 ген исследование на мутацию: Synonyms: Кровь Кровь или Ткань Номинальный; |
| tr-TR | Turkish (Turkey) | MECP2 geni Mutasyon analizi: |
| zh-CN | Chinese (China) | MECP2 基因 突变分析: Synonyms: MeCP-2 蛋白基因; |
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
- https:
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