C190670Level 4
MBD5 wt Allele
**Semantic type:** Gene or Genome
**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.
**Synonyms:** - FLJ11113 - KIAA1461 - MRD1 - Methyl-CpG Binding Domain Protein 5 wt Allele
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