Methyl-CpG-binding domain protein 5 (MBD5)

Methyl-CpG-binding domain protein 5 (MBD5) is a chromatin-associated protein in the methyl-CpG-binding domain (MBD) family that plays a critical non-enzymatic role in gene regulation and neural development[1][3]. It contains both an MBD domain—generally linked to recognition of DNA methylation—and a PWWP domain implicated in chromatin interaction and remodeling[1][3]. MBD5 functions as a non-catalytic component of the polycomb repressive deubiquitinase (PR-DUB) complex, which specifically mediates histone H2A deubiquitination and contributes to epigenetic regulation of gene expression[3]. Mutations, deletions, or duplications of MBD5 cause MBD5-associated neurodevelopmental disorder (MAND), characterized by intellectual disability, developmental and speech delay, epilepsy, autism, and distinctive physical features. MBD5 is not a current therapeutic target for approved drugs but is an important biomarker for molecular diagnosis in neurodevelopmental syndromes[2][3][4].

Other names

KIAA1461FLJ11113C2DELq23.1DEL2Q23.1MRD1methyl-CpG-binding protein MBD5Methyl-CpG binding domain protein 5