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Reviewed September 2009
What is the official name of the COL17A1 gene?
The official name of this gene is “collagen, type XVII, alpha 1.”
COL17A1 is the gene's official symbol. The COL17A1 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 COL17A1 gene?
The COL17A1 gene provides instructions for making a protein that is used to assemble type XVII collagen. Collagens are a family of proteins that strengthen and support connective tissues, such as skin, bone, tendons, and ligaments, throughout the body. In particular, type XVII collagen plays an essential role in strengthening and stabilizing the skin.
The protein produced from the COL17A1 gene is known as a pro-α1(XVII) chain. Three identical pro-α1(XVII) chains twist together to form a triple-stranded, ropelike molecule known as a procollagen. Procollagen molecules are secreted by the cell and processed by enzymes to remove extra protein segments from the ends. Once these molecules are processed, they arrange themselves into long, thin bundles of mature type XVII collagen.
Type XVII collagen is a major component of hemidesmosomes, which are microscopic structures on the inner surface of the top layer of skin (the epidermis). These structures help to anchor the epidermis to underlying layers of skin. Type XVII collagen is critical for the stability of hemidesmosomes, and therefore it plays an important role in holding the layers of skin together.
How are changes in the COL17A1 gene related to health conditions?
Where is the COL17A1 gene located?
Cytogenetic Location: 10q24.3
Molecular Location on chromosome 10: base pairs 104,031,287 to 104,085,879
The COL17A1 gene is located on the long (q) arm of chromosome 10 at position 24.3.
More precisely, the COL17A1 gene is located from base pair 104,031,287 to base pair 104,085,879 on chromosome 10.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about COL17A1?
You and your healthcare professional may find the following resources about COL17A1 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 COL17A1 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 COL17A1?
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.