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The official name of this gene is “SET binding factor 2.”
SBF2 is the gene's official symbol. The SBF2 gene is also known by other names, listed below.
The SBF2 gene (also called MTMR13) provides instructions for making a protein called SET binding factor 2. The function of this protein is unknown, but it is probably involved in the development of specialized cells in the nervous system called Schwann cells. Schwann cells produce myelin, the protective substance that covers nerve cells and promotes the rapid transmission of nerve impulses. SET binding factor 2 probably also plays a role in the development of mesh-like canals (trabecular meshwork) that surround the colored part of the eye (the iris). The trabecular meshwork helps drain excess fluid from the eye.
The SBF2 gene belongs to a family of genes called PTP (protein tyrosine phosphatases).
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 five SBF2 gene mutations have been identified in patients with a form of Charcot-Marie-Tooth disease known as type 4B2. Some of these mutations alter the structure of SET binding factor 2 by introducing a premature stop signal that results in an abnormally short protein. Other mutations lead to the production of a protein that is missing a critical segment. All of these mutations probably result in a nonfunctional protein. Although it is unclear how SBF2 gene mutations lead to this disorder, myelin production is probably disrupted. Irregular myelin structure (called outfolding) is a characteristic sign of type 4B2 Charcot-Marie-Tooth disease.
Individuals with this disorder may also experience a buildup of fluid pressure within the eye (glaucoma) beginning in childhood or adolescence. Researchers believe that the appearance of glaucoma depends on the type of SBF2 gene mutation. A mutation that causes complete loss of protein function interferes with the development of the eye's trabecular meshwork, leading to impaired fluid drainage and glaucoma. Less severe mutations, which allow partial function of the SET binding factor 2 protein, do not cause glaucoma.
Cytogenetic Location: 11p15.4
Molecular Location on chromosome 11: base pairs 9,800,213 to 10,315,753
The SBF2 gene is located on the short (p) arm of chromosome 11 at position 15.4.
More precisely, the SBF2 gene is located from base pair 9,800,213 to base pair 10,315,753 on chromosome 11.
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 SBF2 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.
gene ; glaucoma ; mutation ; nervous system ; protein ; Schwann cells ; sign ; trabecular meshwork
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.