| Gene Symbol | MBD4 |
| Full Name | MBD4 - Methyl-CpG Binding Domain Protein 4 |
| Aliases | Page for MBD4 Gene, Page for MBD4 Protein |
| Chromosome | 18q21.2. |
| Protein Type | Gene |
| Function | is a DNA repair enzyme encoded by the MBD4 gene located on chromosome 18q21. |
| Primary Expression | most human tissues with particular significance in: - Brain (neurons, astrocytes, microglia) - Hematopoietic system - Gastroin |
| Subcellular Localization | methylated DNA: |
| Amino Acids | 606 aa |
| Exons | 16 |
| GeneCards | MBD4 |
| Human Protein Atlas | MBD4 |
| Linker Region | A flexible linker connects the MBD and glycosylase domains, allowing independent functioning of each domain while maintaining protein stability. |
| Deamination Protection | Spontaneous deamination of 5-methylcytosine creates thymine, generating T:G mismatches. MBD4 removes the mismatched thymine, allowing insertion of the correct cytosine during repair synthesis. |
| CpG Site Maintenance | This repair mechanism protects CpG islands from C→T transition mutations, which are among the most common mutations in human disease. |
| Associated Diseases | neurodegeneration |
| Databases | GeneCardsUniProtNCBI GeneHPASTRING |
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