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Reviewed January 2008
What is the official name of the COL7A1 gene?
The official name of this gene is “collagen, type VII, alpha 1.”
COL7A1 is the gene's official symbol. The COL7A1 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 COL7A1 gene?
The COL7A1 gene provides instructions for making proteins that are used to assemble type VII 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 VII collagen plays an essential role in strengthening and stabilizing the skin.
The proteins produced from the COL7A1 gene, called pro-α1(VII) chains, are the components of type VII collagen. Three pro-α1(VII) 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 VII collagen.
Type VII collagen is the major component of structures in the skin called anchoring fibrils. These fibrils are found in a region known as the epidermal basement membrane zone, which is a two-layer membrane located between the top layer of skin, called the epidermis, and an underlying layer called the dermis. Anchoring fibrils hold the two layers of skin together by connecting the epidermal basement membrane to the dermis.
Does the COL7A1 gene share characteristics with other genes?
The COL7A1 gene belongs to a family of genes called fibronectin type III domain containing (fibronectin type III domain containing).
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? in the Handbook.
How are changes in the COL7A1 gene related to health conditions?
Where is the COL7A1 gene located?
Cytogenetic Location: 3p21.1
Molecular Location on chromosome 3: base pairs 48,601,505 to 48,632,592
The COL7A1 gene is located on the short (p) arm of chromosome 3 at position 21.1.
More precisely, the COL7A1 gene is located from base pair 48,601,505 to base pair 48,632,592 on chromosome 3.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about COL7A1?
You and your healthcare professional may find the following resources about COL7A1 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 COL7A1 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 COL7A1?
acids ; amino acid ; autosomal ; autosomal dominant ; autosomal recessive ; carcinoma ; cell ; collagen ; domain ; epidermis ; gene ; glycine ; keratinocyte ; molecule ; protein ; recessive ; trauma ; tumor
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (11 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.