Profil protéine

This gene encodes a member of the methyl-CpG-binding domain (MBD) family. The MBD consists of about 70 residues and is the minimal region required for a methyl-CpG-binding protein binding specifically to methylated DNA. In addition to the MBD domain, this protein contains a PWWP domain (Pro-Trp-Trp-Pro motif), which consists of 100-150 amino acids and is found in numerous proteins that are involved in cell division, growth and differentiation. Mutations in this gene cause mental retardation autosomal dominant type 1. Haploinsufficiency of this gene is associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures. Alternatively spliced transcript variants have been found, but their full-length nature is not determined.

Alternative names and synonyms associated with Methyl-CpG Binding Domain Protein 5 (MBD5)

• methyl-CpG binding domain protein 5 (MBD5) anticorps
• methyl-CpG binding domain protein 5 (mbd5) anticorps
• methyl-CpG binding domain protein 5 (Mbd5) anticorps

• 9430004D19Rik anticorps
• AA536666 anticorps
• AI426407 anticorps
• C030040A15Rik anticorps
• MBD5 anticorps
• Afficher tous les alias de synonymes
• MRD1 anticorps
• OTTMUSG00000012483 anticorps

Protein level used designations for MBD5

methyl-CpG binding domain protein 5 , methyl-CpG-binding domain protein 5 , methyl-CpG-binding domain protein 5-like , methyl-CpG-binding protein MBD5