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Reviewed August 2013
What is the official name of the FKRP gene?
The official name of this gene is “fukutin related protein.”
FKRP is the gene's official symbol. The FKRP 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 FKRP gene?
The FKRP gene provides instructions for making a protein called fukutin-related protein (FKRP). This protein is present in many of the body's tissues but is particularly abundant in muscles used for movement (skeletal muscles), the brain, and the heart. Within cells, FKRP is found in a specialized structure called the Golgi apparatus, where newly produced proteins are modified.
Although the exact function of FKRP is unclear, researchers predict that it may chemically modify a protein called alpha (α)-dystroglycan. Specifically, FKRP 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 FKRP gene related to health conditions?
Genetics Home Reference provides information about limb-girdle muscular dystrophy, which is also associated with changes in the FKRP gene.
Where is the FKRP gene located?
Cytogenetic Location: 19q13.32
Molecular Location on chromosome 19: base pairs 47,249,302 to 47,261,831
The FKRP gene is located on the long (q) arm of chromosome 19 at position 13.32.
More precisely, the FKRP gene is located from base pair 47,249,302 to base pair 47,261,831 on chromosome 19.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about FKRP?
You and your healthcare professional may find the following resources about FKRP 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 FKRP 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 FKRP?
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (7 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.