MECP2 wt Allele

Preferred Label : MECP2 wt Allele;

NCIt synonyms : MECP2; Methyl CpG Binding Protein 2 (Rett Syndrome) wt Allele;

NCIt definition : Human MECP2 wild-type allele is located in the vicinity of Xq28 and is approximately 76 kb in length. This allele, which encodes methyl-CpG-binding protein 2, is involved in transcriptional modulation. Mutations in the gene are associated with a number of congenital neurological diseases.;

NCIt note : Mutations in the MECP2 gene are associated with Angelman syndrome, mental retardation syndromic X-linked type 13, Rett syndrome, susceptibility to X-linked autism 3, and neonatal severe encephalopathy due to MECP2 mutations. A chromosomal duplication, which involves the MECP2 gene, is linked to Lubs type X-linked mental retardation syndrome. (UniProt);

GenBank Accession Number : AF158180;

Details

Origin ID

C75728;

UMLS CUI

C2697959;

OMIM relation
- Methyl-cpg-binding protein 2 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_associated_with_disease
- Rett Syndrome [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- Xq28 [NCIt concept]
gene_plays_role_in_process
- DNA Methylation Regulation [NCIt concept]
- Transcriptional Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

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