| Gene Symbol | Methyl-CpG Binding Domain Protein 3 |
| Aliases | Page for MBD3 Gene, Page for MBD3 Protein |
| Chromosome | 19p13.3 |
| Function | MBD3 is a core component of the NuRD complex, which possesses both chromatin remodeling ATPase (CHD4/Mi-2) and histone deacetylase (HDAC1/2) activities. |
| UniProt ID | Q9UBB4 |
| NCBI Gene ID | 53615 |
| Ensembl ID | ENSG00000071655 |
| OMIM | 157574 |
| Neurodevelopmental disorders | Dysregulated MBD3 expression and mutations have been implicated in autism spectrum disorders, intellectual disability, and Rett syndrome-related phenotypes [1]. |
| Cancer | MBD3 functions as both tumor suppressor and oncogene in context-dependent manner. Loss enhances tumor progression in some contexts while overexpression is associated with poor prognosis in others. |
| Neurodegeneration | Emerging evidence suggests roles for MBD3 and NuRD complex dysfunction in: |
| Brain | Particularly during development, with persistent expression in adult cortex, hippocampus, and cerebellum |
| Embryonic stem cells | Critical for maintaining pluripotency |
| Hematopoietic system | Important for hematopoiesis and immune cell differentiation |
| Other tissues | Heart, lung, liver, kidney with moderate expression |
| Associated Diseases | neurodegeneration |
| Databases | GeneCardsHPASTRING |
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