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MECP2 wt Allele

Go to external page http://purl.obolibrary.org/obo/NCIT_C75728

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. [ ]

Term info

Label

MECP2 wt Allele

Synonyms
  • MECP2
  • MECP2 wt Allele
  • Methyl CpG Binding Protein 2 (Rett Syndrome) wt Allele
DesignNote

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)

Legacy Concept Name

MECP2_wt_Allele

OMIM Number

300005

Preferred Name

MECP2 wt Allele

Semantic Type

Gene or Genome

UMLS CUI

C2697959

code

C75728