The SMARCB1 gene provides instructions for making a protein that forms one piece (subunit) of several different protein groupings called SWI/SNF protein complexes. SWI/SNF complexes regulate gene activity (expression) by a process known as chromatin remodeling. Chromatin is the network of DNA and protein that packages DNA into chromosomes. The structure of chromatin can be changed (remodeled) to alter how tightly DNA is packaged. Chromatin remodeling is one way gene expression is regulated during development; when DNA is tightly packed, gene expression is lower than when DNA is loosely packed.
Through their ability to regulate gene activity, SWI/SNF complexes are involved in many processes, including repairing damaged DNA; copying (replicating) DNA; and controlling the growth, division, and maturation (differentiation) of cells. Through these processes, the SMARCB1 protein and other SWI/SNF subunits are thought to act as tumor suppressors, which keep cells from growing and dividing too rapidly or in an uncontrolled way.
The role of the SMARCB1 protein within the SWI/SNF complex is not fully understood.
Other Names
BAF47; BRG1-associated factor 47; INI1; integrase interactor 1 protein; SNF5; SNF5 homolog; SNF5_HUMAN; SNF5L1
Related Genetics Topics
- Coffin-Siris syndrome — MedlinePlus Genetics
- Schwannomatosis — MedlinePlus Genetics
- Rhabdoid tumor predisposition syndrome — MedlinePlus Genetics
Identifiers
- NCBI Gene: 6598
- OMIM: 601607
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
