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The official name of this gene is “structural maintenance of chromosomes 3.”
SMC3 is the gene's official symbol. The SMC3 gene is also known by other names, listed below.
The SMC3 gene provides instructions for making a protein that is part of a family called the structural maintenance of chromosomes (SMC) family. Within the nucleus, SMC proteins help regulate the structure and organization of chromosomes.
The protein produced from the SMC3 gene helps control the activity of chromosomes during cell division. Before cells divide, they must copy all of their chromosomes. The copied DNA from each chromosome is arranged into two identical structures, called sister chromatids, which are attached to one another during the early stages of cell division. The SMC3 protein is part of a protein group called the cohesion complex that holds the sister chromatids together.
Researchers believe that the SMC3 protein also plays important roles in stabilizing cells' genetic information, repairing damaged DNA, and controlling the activity of certain genes that are essential for normal development.
Although the SMC3 protein is found primarily in the nucleus, some of this protein is exported from cells. The exported protein, which is usually called bamacan, may help cells stick together (cell adhesion) and likely plays a role in cell growth. Bamacan is a component of basement membranes, which are thin, sheet-like structures that separate and support cells in many tissues. Little else is known about the function of this protein outside the cell, but it appears to be involved in normal development.
The SMC3 gene belongs to a family of genes called proteoglycans (proteoglycans). It also belongs to a family of genes called SMC (structural maintenance of chromosomes proteins).
A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.
At least one mutation in the SMC3 gene has been found to cause Cornelia de Lange syndrome. SMC3 gene mutations appear to be a rare cause of this disorder.
The identified mutation, which is written as E488del, deletes a single protein building block (amino acid) called glutamic acid from the SMC3 protein. This genetic change alters the structure and function of the protein, disrupting its ability to regulate genes involved in development. These changes in gene regulation are likely responsible for the developmental problems characteristic of Cornelia de Lange syndrome.
Studies suggest that the E488del mutation in the SMC3 gene causes a form of Cornelia de Lange syndrome with relatively mild features. Compared with mutations in the NIPBL gene, which are a much more common cause of the disorder, the E488del mutation causes less significant delays in development and growth and is not associated with major birth defects.
Cytogenetic Location: 10q25
Molecular Location on chromosome 10: base pairs 110,567,690 to 110,604,633
The SMC3 gene is located on the long (q) arm of chromosome 10 at position 25.
More precisely, the SMC3 gene is located from base pair 110,567,690 to base pair 110,604,633 on chromosome 10.
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 SMC3 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.
amino acid ; basement membrane ; basement membranes ; cell ; cell adhesion ; cell division ; chromatid ; chromosome ; cohesion ; DNA ; gene ; gene regulation ; glutamic acid ; mutation ; nucleus ; protein ; proteoglycan ; sister chromatid ; sister chromatid cohesion ; sulfate ; syndrome
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://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.