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Reviewed May 2013
What is the official name of the SMARCB1 gene?
The official name of this gene is “SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1.”
SMARCB1 is the gene's official symbol. The SMARCB1 gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.
What is the normal function of the SMARCB1 gene?
The SMARCB1 gene provides instructions for making a protein that forms one piece (subunit) of several different 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. 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 completely understood.
How are changes in the SMARCB1 gene related to health conditions?
Where is the SMARCB1 gene located?
Cytogenetic Location: 22q11.23
Molecular Location on chromosome 22: base pairs 24,129,149 to 24,176,704
The SMARCB1 gene is located on the long (q) arm of chromosome 22 at position 11.23.
More precisely, the SMARCB1 gene is located from base pair 24,129,149 to base pair 24,176,704 on chromosome 22.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about SMARCB1?
You and your healthcare professional may find the following resources about SMARCB1 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
What other names do people use for the SMARCB1 gene or gene products?
See How are genetic conditions and genes named? in the Handbook.
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding SMARCB1?
acids ; actin ; atypical ; benign ; cancer ; chromatin ; chromatin remodeling ; differentiation ; DNA ; gene ; gene expression ; kidney ; mutation ; predisposition ; protein ; schwannoma ; somatic mutation ; sporadic ; subunit ; syndrome ; tumor
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (8 links)
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.