Gene Symbol | SMARCB1 |
Entrez Gene ID | 6598 |
Full Name | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 |
Synonyms | BAF47,CSS3,INI1,MRD15,PPP1R144,RDT,RTPS1,SNF5,SNF5L1,SWNTS1,Sfh1p,Snr1,hSNFS |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]. |
Disorder MIM: | |
Disorder Html: | Rhabdoid tumors, somatic, 609322 (3); {Rhabdoid predisposition syndrome 1}, 609322 (3); Coffin-Siris syndrome 3, 614608 (3); {Schwannomatosis-1, susceptibility to}, 162091 (3) |