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Reviewed August 2013
What is the official name of the FKTN gene?
The official name of this gene is “fukutin.”
FKTN is the gene's official symbol. The FKTN gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.
What is the normal function of the FKTN gene?
The FKTN gene (formerly known as FCMD) provides instructions for making a protein called fukutin. This protein is present in many of the body's tissues but is particularly abundant in muscles used for movement (skeletal muscles), the heart, and the brain.
Although the exact function of fukutin is unclear, researchers predict that it may chemically modify a protein called alpha (α)-dystroglycan. Specifically, fukutin is thought to add chains of sugar molecules to α-dystroglycan through a process known as glycosylation. Glycosylation is critical for the normal function of α-dystroglycan.
The α-dystroglycan protein helps anchor the structural framework inside each cell (cytoskeleton) to the lattice of proteins and other molecules outside the cell (extracellular matrix). In skeletal muscles, glycosylated α-dystroglycan helps stabilize and protect muscle fibers. In the brain, it helps direct the movement (migration) of nerve cells (neurons) during early development.
How are changes in the FKTN gene related to health conditions?
Genetics Home Reference provides information about limb-girdle muscular dystrophy, which is also associated with changes in the FKTN gene.
Where is the FKTN gene located?
Cytogenetic Location: 9q31.2
Molecular Location on chromosome 9: base pairs 105,558,118 to 105,641,117
The FKTN gene is located on the long (q) arm of chromosome 9 at position 31.2.
More precisely, the FKTN gene is located from base pair 105,558,118 to base pair 105,641,117 on chromosome 9.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about FKTN?
You and your healthcare professional may find the following resources about FKTN helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
What other names do people use for the FKTN gene or gene products?
See How are genetic conditions and genes named? in the Handbook.
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 FKTN?
cardiomyopathy ; cell ; congenital ; cytoskeleton ; dilated ; DNA ; extracellular ; extracellular matrix ; gene ; glycosylation ; insertion ; kilobase ; muscle cells ; muscular dystrophy ; mutation ; neuronal migration ; population ; protein ; syndrome
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (14 links)
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.