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Reviewed May 2013
What is the official name of the SMARCE1 gene?
The official name of this gene is “SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1.”
SMARCE1 is the gene's official symbol. The SMARCE1 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 SMARCE1 gene?
The SMARCE1 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 role of the SMARCE1 protein within the SWI/SNF complex is not completely understood.
How are changes in the SMARCE1 gene related to health conditions?
Where is the SMARCE1 gene located?
Cytogenetic Location: 17q21.2
Molecular Location on chromosome 17: base pairs 40,627,719 to 40,647,850
The SMARCE1 gene is located on the long (q) arm of chromosome 17 at position 21.2.
More precisely, the SMARCE1 gene is located from base pair 40,627,719 to base pair 40,647,850 on chromosome 17.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about SMARCE1?
You and your healthcare professional may find the following resources about SMARCE1 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 SMARCE1 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 SMARCE1?
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.