SMC3

Reviewed February 2010

What is the official name of the SMC3 gene?

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.

What is the normal function of the SMC3 gene?

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.

Does the SMC3 gene share characteristics with other genes?

The SMC3 gene belongs to a family of genes called PG (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.

How are changes in the SMC3 gene related to health conditions?

Cornelia de Lange syndrome - caused by mutations in the SMC3 gene

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.

Where is the SMC3 gene located?

Cytogenetic Location: 10q25

Molecular Location on chromosome 10: base pairs 112,327,448 to 112,364,391

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 112,327,448 to base pair 112,364,391 on chromosome 10.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about SMC3?

You and your healthcare professional may find the following resources about SMC3 helpful.

Educational resources - Information pages
- Human Molecular Genetics 2 (1999): Structure and Function of Chromosomes (http://www.ncbi.nlm.nih.gov/books/NBK7572/)
- Molecular Biology of the Cell (fourth edition, 2002): Cohesins and Condensins Help Configure Replicated Chromosomes for Segregation (http://www.ncbi.nlm.nih.gov/books/NBK26931/)
Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/books/NBK1104/)
Genetic Testing Registry - Repository of genetic test information
- GTR: Genetic tests for SMC3 (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9126%5Bgeneid%5D)

You may also be interested in these resources, which are designed for genetics professionals and researchers.

PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=(SMC3%5BTIAB%5D)%20OR%20((bamacan%5BTIAB%5D)%20OR%20(chondroitin%20sulfate%20proteoglycan%206%5BTIAB%5D))%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%201800%20days%22%5Bdp%5D)
OMIM - Genetic disorder catalog (http://omim.org/entry/606062)
Research Resources - Tools for researchers
- Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_SMC3.html)
- Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/9126)
- GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=9126)
- HUGO Gene Nomenclature Committee (http://www.genenames.org/data/hgnc_data.php?hgnc_id=2468)

What other names do people use for the SMC3 gene or gene products?

BAM
bamacan
basement membrane-associated chondroitin proteoglycan
BMH
chondroitin sulfate proteoglycan 6
chromosome-associated polypeptide
CSPG6
HCAP
SMC3_HUMAN
SMC3L1

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding SMC3?

amino acid ; cell ; cell adhesion ; cell division ; chromatid ; chromosome ; cohesion ; DNA ; gene ; gene regulation ; 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://www.ghr.nlm.nih.gov/glossary).

References

Deardorff MA, Kaur M, Yaeger D, Rampuria A, Korolev S, Pie J, Gil-Rodríguez C, Arnedo M, Loeys B, Kline AD, Wilson M, Lillquist K, Siu V, Ramos FJ, Musio A, Jackson LS, Dorsett D, Krantz ID. Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation. Am J Hum Genet. 2007 Mar;80(3):485-94. Epub 2007 Jan 17. (http://www.ncbi.nlm.nih.gov/pubmed/17273969?dopt=Abstract)
Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/9126)
Ghiselli G, Siracusa LD, Iozzo RV. Complete cDNA cloning, genomic organization, chromosomal assignment, functional characterization of the promoter, and expression of the murine Bamacan gene. J Biol Chem. 1999 Jun 11;274(24):17384-93. (http://www.ncbi.nlm.nih.gov/pubmed/10358101?dopt=Abstract)
Ghiselli G. SMC3 knockdown triggers genomic instability and p53-dependent apoptosis in human and zebrafish cells. Mol Cancer. 2006 Nov 2;5:52. (http://www.ncbi.nlm.nih.gov/pubmed/17081288?dopt=Abstract)
Hirano T. At the heart of the chromosome: SMC proteins in action. Nat Rev Mol Cell Biol. 2006 May;7(5):311-22. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16633335?dopt=Abstract)
Losada A, Hirano T. Dynamic molecular linkers of the genome: the first decade of SMC proteins. Genes Dev. 2005 Jun 1;19(11):1269-87. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15937217?dopt=Abstract)
Revenkova E, Focarelli ML, Susani L, Paulis M, Bassi MT, Mannini L, Frattini A, Delia D, Krantz I, Vezzoni P, Jessberger R, Musio A. Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA. Hum Mol Genet. 2009 Feb 1;18(3):418-27. doi: 10.1093/hmg/ddn369. Epub 2008 Nov 7. (http://www.ncbi.nlm.nih.gov/pubmed/18996922?dopt=Abstract)
Watrin E, Peters JM. Cohesin and DNA damage repair. Exp Cell Res. 2006 Aug 15;312(14):2687-93. Epub 2006 Jun 22. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16876157?dopt=Abstract)

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.



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