Methyl-CpG-binding domain protein 5 (UniProt: Q9P267; also known as Methyl-CpG-binding protein MBD5) is encoded by the MBD5 (also known as KIAA1461) gene (Gene ID: 55777) in human. MBD proteins play a role in diverse processes, including chromatin remodeling, DNA damage repair, histone methylation, and X chromosome inactivation. MBD5 is detected in heart, placenta, liver, skeletal muscle, kidney, and pancreas. It binds to heterochromatin, but does not interact with either methylated or unmethylated DNA (in vitro). It contains a MBD domain (aa 11-81) and a PWWP (Pro-Trp-Trp-Pro) domain (aa 1385-1447). Both MBD and PWWP domains are shown to be essential for chromocentric localization. Two isoforms of MBD5 have been reported that are produced by alternative splicing. However, only the isoform 1 associates with pericentric heterochromatin. Mutations in MBD5 gene are known to cause autosomal dominant mental retardation, which is characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior. (Ref.: Camarena, V et al., (2014). EMBO Mol. Med. 6(8); 1003 1015).
Synonyms: Methyl-CpG-binding domain protein 5, Methyl-CpG-binding protein MBD
Application: Research CategoryEpigenetics & Nuclear Function
Other Notes: Concentration: Please refer to lot specific datasheet.