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Reviewed May 2013
What is the official name of the PLEC gene?
The official name of this gene is “plectin.”
PLEC is the gene's official symbol. The PLEC 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 PLEC gene?
The PLEC gene provides instructions for making a protein called plectin. This protein is produced in many different tissues in the body, including skin and muscle. Within cells, plectin interacts with several molecules that make up the cell's structural framework (the cytoskeleton). For example, plectin interacts with intermediate filaments, which form networks that provide support and strength to cells. Plectin attaches (cross-links) intermediate filaments to one another and to the cell membrane.
The exact function of plectin in different tissues is unclear. In skin cells, this protein is an essential part of structures called hemidesmosomes, which attach the network of intermediate filaments to the cell membrane. It is also a component of desmosomes, which form junctions between neighboring cells. As part of these structures, plectin plays a critical role in anchoring the outer layer of the skin (the epidermis) to underlying layers.
How are changes in the PLEC gene related to health conditions?
Genetics Home Reference provides information about congenital myasthenic syndrome, which is also associated with changes in the PLEC gene.
Where is the PLEC gene located?
Cytogenetic Location: 8q24
Molecular Location on chromosome 8: base pairs 143,915,146 to 143,976,744
The PLEC gene is located on the long (q) arm of chromosome 8 at position 24.
More precisely, the PLEC gene is located from base pair 143,915,146 to base pair 143,976,744 on chromosome 8.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about PLEC?
You and your healthcare professional may find the following resources about PLEC 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 PLEC 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 PLEC?
amino acid ; arginine ; atresia ; atrophy ; blister ; cell ; cell membrane ; congenital ; contraction ; cytoskeleton ; digestive ; epidermis ; gene ; intermediate filaments ; keratin ; muscular dystrophy ; mutation ; obstruction ; protein ; pyloric ; syndrome ; tissue ; trauma ; tryptophan ; wasting
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (10 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.