MBD5 wt Allele

Preferred Label : MBD5 wt Allele;

NCIt synonyms : FLJ11113; MRD1; KIAA1461; Methyl-CpG Binding Domain Protein 5 wt Allele;

NCIt definition : Human MBD5 wild-type allele is located in the vicinity of 2q23.2 and is approximately 496 kb in length. This allele, which encodes methyl-CpG-binding domain protein 5, is involved in heterochromatin and protein-protein binding. Mutations in the gene are associated with autosomal dominant intellectual developmental disorder 1.;

NCI Metathesaurus CUI : CL1799087;

GenBank Accession Number : AB040894;

Details

Origin ID

C190670;

UMLS CUI

C5780733;

OMIM relation
- Methyl-cpg-binding domain protein 5 [OMIM gene]
See also inter- (CISMeF)
- Intellectual developmental disorder, autosomal dominant 1 [OMIM Phenotype]
- autosomal dominant non-syndromic intellectual disability 1 [DO Concept]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
Validated automatic mappings to NTBT
- Methyl-cpg-binding domain protein 5 [OMIM gene]
- methyl-CpG binding domain protein 5 [ORDO Gene]
gene_found_in_organism
- Human [NCIt concept]
gene_plays_role_in_process
- Deubiquitination [NCIt concept]
- Histone Modification [NCIt concept]
- Ligand Binding [NCIt concept]

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