Entrez gene ID | | 6598 |
Official gene symbol | | SMARCB1 |
Full name | | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 |
Aliases | | ,BAF47,INI1,RDT,RTPS1,SNF5,SNF5L1,Sfh1p,Snr1,hSNFS, |
Gene summary | | The protein encoded by this gene is part of a complex that relieves repressive chromatin structures, allowing the transcriptional machinery to access its targets more effectively. The encoded nuclear protein may also bind to and enhance the DNA joining activity of HIV-1 integrase. This gene has been found to be a tumor suppressor, and mutations in it have been associated with malignant rhabdoid tumors. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] |
Location | | Chromosome: 22 Locus: 22q11.23|22q11 |
Gene position | | 24129150 - 24176705 Map Viewer |
Gene orientation | | plus |
Gene size | | 47556 bp |
Gene sequence |
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OMIM ID | | 601607 |
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