Reviewed March 2007
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, these proteins help regulate the structure and organization of chromosomes.
Studies suggest that the SMC3 protein functions primarily within cells, where it 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 together 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 until the cell splits into two. Researchers believe that the SCM3 protein also plays important roles in stabilizing cells' genetic information and repairing damaged DNA.
Some of the protein produced from the SMC3 gene is exported from cells. The exported protein, which is usually called bamacan, may help connect cells 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. Although little else is known about the function of this protein outside the cell, it appears to be involved in normal development.
How are changes in the SMC3 gene related to health conditions?
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Cornelia de Lange syndrome - caused by mutations in the SMC3 gene
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At least one mutation in the SMC3 mutation is known to cause a relatively mild form of Cornelia de Lange syndrome. This mutation, which is written as E488del, deletes a single protein building block (amino acid) from the SMC3 protein. This genetic change alters the structure of the protein, which disrupts its activity as part of the cohesion complex during cell division. Researchers are uncertain how changes in the SMC3 protein can result in the developmental problems characteristic of Cornelia de Lange syndrome.
Where is the SMC3 gene located?
Cytogenetic Location: 10q25
Molecular Location on chromosome 10: base pairs 112,317,438 to 112,354,381
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 112,317,438 to base pair 112,354,381 on chromosome 10.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about SMC3?
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- PubMed - Recent literature
- OMIM - Genetic disorder catalog
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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
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 SMC3?
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.