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The official name of this gene is “SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1.”
SMARCAL1 is the gene's official symbol. The SMARCAL1 gene is also known by other names, listed below.
The SMARCAL1 gene provides instructions for producing a protein whose specific function is unknown. The SMARCAL1 protein can attach (bind) to chromatin, which is the complex of DNA and protein that packages DNA into chromosomes. Based on the function of similar proteins, the SMARCAL1 protein is thought to influence the activity (expression) of other genes through a process known as chromatin remodeling. 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.
More than 40 mutations in the SMARCAL1 gene have been found to increase the risk of Schimke immuno-osseous dysplasia. The mutations associated with Schimke immuno-osseous dysplasia disrupt the usual functions of the SMARCAL1 protein or prevent the production of any functional protein. People who have mutations that cause a complete lack of functional protein tend to have a more severe form of this disorder than those who have mutations that lead to an active but malfunctioning protein. Mutations in the SMARCAL1 gene are thought to lead to disease by affecting protein activity, protein stability, or the protein's ability to bind to chromatin. It is not clear how SMARCAL1 mutations contribute to short stature, kidney disease, and a weakened immune system in people with Schimke immuno-osseous dysplasia. In order for people with SMARCAL1 gene mutations to develop Schimke immuno-osseous dysplasia, other currently unknown genetic or environmental factors must also be present.
Cytogenetic Location: 2q35
Molecular Location on chromosome 2: base pairs 216,412,413 to 216,483,052
The SMARCAL1 gene is located on the long (q) arm of chromosome 2 at position 35.
More precisely, the SMARCAL1 gene is located from base pair 216,412,413 to base pair 216,483,052 on chromosome 2.
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 SMARCAL1 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 ; chromatin ; chromatin remodeling ; DNA ; dysplasia ; gene ; gene expression ; immune system ; kidney ; protein ; short stature ; stature
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/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.