|http://ghr.nlm.nih.gov/ A service of the U.S. National Library of Medicine®|
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.
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.
At least one mutation in the SMARCE1 gene causes Coffin-Siris syndrome, which is characterized by delayed development, abnormalities of the fifth (pinky) fingers or toes, and characteristic facial features that are described as coarse. This gene mutation changes a single protein building block (amino acid) in the SMARCE1 protein; the amino acid tyrosine at protein position 73 is replaced by the amino acid cysteine (written as Tyr73Cys). Although it is unclear how this change affects SWI/SNF complexes, researchers suggest that the mutation results in abnormal chromatin remodeling. Disturbance of this process alters the activity of many genes and disrupts several cellular processes, which could explain the diverse signs and symptoms of Coffin-Siris syndrome.
Cytogenetic Location: 17q21.2
Molecular Location on chromosome 17: base pairs 40,627,720 to 40,647,851
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 40,627,720 to base pair 40,647,851 on chromosome 17.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
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.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
actin ; amino acid ; chromatin ; chromatin remodeling ; cysteine ; differentiation ; DNA ; gene ; gene expression ; mutation ; protein ; subunit ; syndrome ; tyrosine
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
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? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.