| Gene Symbol | SMARCB1 |
| Full Name | SWI/SNF Related Matrix Associated Actin Dependent Regulator of Chromatin Subfamily B Member 1 |
| Chromosome | 22q11.23 |
| Function | encodes a core subunit of the SWI/SNF (BAF/PBAF) chromatin remodeling complex, which uses ATP hydrolysis to reposition nucleosomes and regulate gene expression. |
| Primary Expression | neurons, oligodendrocytes, and Schwann cells, where it maintains lin |
| Molecular Weight | 44 kDa |
| Amino Acids | 385 aa |
| UniProt ID | Q12824 |
| NCBI Gene ID | 6598 |
| Ensembl ID | ENSG00000099956 |
| OMIM | 601607 |
| GeneCards | SMARCB1 |
| Human Protein Atlas | SMARCB1 |
| Promoter-proximal nucleosome regulation | SMARCB1 positions the BAF complex at the +1 nucleosome of active gene promoters, facilitating RNA Polymerase II pause release and productive transcription elongation |
| Associated Diseases | Als, Alzheimer, neurofibromatosis, schwannomatosis, Tumor |
| Interactions | AKT, ALZHEIMER, APOE, APP, CALB1, CCT4 |
| KG Connections | 103 knowledge graph edges |
| Databases | GeneCardsHPASTRING |
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