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Reviewed May 2013
What is the official name of the SMARCA4 gene?
The official name of this gene is “SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4.”
SMARCA4 is the gene's official symbol. The SMARCA4 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 SMARCA4 gene?
The SMARCA4 gene provides instructions for making a protein called BRG1, which 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 BRG1 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 BRG1 protein uses a molecule called ATP, which provides energy for chromatin remodeling, although the exact mechanism of remodeling is unclear.
How are changes in the SMARCA4 gene related to health conditions?
Where is the SMARCA4 gene located?
Cytogenetic Location: 19p13.2
Molecular Location on chromosome 19: base pairs 10,960,921 to 11,062,281
The SMARCA4 gene is located on the short (p) arm of chromosome 19 at position 13.2.
More precisely, the SMARCA4 gene is located from base pair 10,960,921 to base pair 11,062,281 on chromosome 19.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about SMARCA4?
You and your healthcare professional may find the following resources about SMARCA4 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 SMARCA4 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 SMARCA4?
acids ; actin ; amino acid ; ATP ; cancer ; cell ; chromatin ; chromatin remodeling ; differentiation ; DNA ; gene ; gene expression ; helicase ; molecule ; protein ; subunit ; syndrome ; transcription ; tumor
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (5 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.