Reviewed May 2006
What is the official name of the COL5A1 gene?
The official name of this gene is “collagen, type V, alpha 1.”
COL5A1 is the gene's official symbol. The COL5A1 gene is also known by other names, listed below.
What is the normal function of the COL5A1 gene?
The COL5A1 gene provides instructions for making a component of collagen. Collagens form a family of proteins that strengthen and support many tissues in the body, including skin, ligaments, bones, tendons, muscles, and the space between cells and tissues called the extracellular matrix. The COL5A1 gene produces a component of type V collagen, called the pro-alpha1(V) chain. Three of these chains combine to make a molecule of type V procollagen. Alternatively, two of these chains can also combine with one pro-alpha2(V) chain (produced by the COL5A2 gene) to form type V procollagen. These triple-stranded rope-like procollagen molecules must be processed by enzymes outside the cell. Once these molecules are processed, they arrange themselves into long, thin fibrils that cross-link to one another in the spaces around cells. The cross-links result in the formation of very strong, mature type V collagen fibers. Type V collagen also plays a role in assembling other types of collagen into fibrils within many connective tissues and is essential for the formation of normal type I collagen fibrils.
Does the COL5A1 gene share characteristics with other genes?
The COL5A1 gene belongs to a family of genes called COL (collagens).
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? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.
How are changes in the COL5A1 gene related to health conditions?
- Ehlers-Danlos syndrome - caused by mutations in the COL5A1 gene
More than 50 percent of cases of classical Ehlers-Danlos syndrome are caused by mutations in the COL5A1 gene. Many of these mutations lead to a nonfunctional or absent pro-alpha1(V) chain. As a result, type V collagen fibrils in the skin and other tissues cannot be assembled correctly. The fibrils are disorganized and larger than usual. Researchers have not determined precisely how these changes in collagen structure cause the signs and symptoms of classical Ehlers-Danlos syndrome.
Where is the COL5A1 gene located?
Cytogenetic Location: 9q34.2-q34.3
Molecular Location on chromosome 9: base pairs 134,641,785 to 134,844,842
The COL5A1 gene is located on the long (q) arm of chromosome 9 between positions 34.2 and 34.3.
More precisely, the COL5A1 gene is located from base pair 134,641,785 to base pair 134,844,842 on chromosome 9.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
Where can I find additional information about COL5A1?
You and your healthcare professional may find the following resources about COL5A1 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=%28COL5A1%5BTIAB%5D%29%20OR%20%28alpha%201%20type%20V%20collagen%20preproprotein%5BTIAB%5D%29%20AND%20%28%28Genes%5BMH%5D%29%20OR%20%28Genetic%20Phenomena%5BMH%5D%29%29%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%203240%20days%22%5Bdp%5D)
- OMIM - Genetic disorder catalog (http://omim.org/entry/120215)
Research Resources - Tools for researchers
- Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_COL5A1.html)
- Ehlers-Danlos Syndrome Variant Database (https://eds.gene.le.ac.uk/home.php?select_db=COL5A1)
- HGNC Gene Family: Collagens (http://www.genenames.org/cgi-bin/genefamilies/set/490)
- HGNC Gene Symbol Report (http://www.genenames.org/cgi-bin/gene_symbol_report?q=data/hgnc_data.php&hgnc_id=2209)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/1289)
What other names do people use for the COL5A1 gene or gene products?
- alpha 1 type V collagen preproprotein
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
What glossary definitions help with understanding COL5A1?
extracellular matrix ;
You may find definitions for these and many other terms in the Genetics Home Reference
- De Paepe A, Nuytinck L, Hausser I, Anton-Lamprecht I, Naeyaert JM. Mutations in the COL5A1 gene are causal in the Ehlers-Danlos syndromes I and II. Am J Hum Genet. 1997 Mar;60(3):547-54. (http://www.ncbi.nlm.nih.gov/pubmed/9042913?dopt=Abstract)
- Malfait F, Wenstrup RJ, De Paepe A. Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type. Genet Med. 2010 Oct;12(10):597-605. doi: 10.1097/GIM.0b013e3181eed412. Review. (http://www.ncbi.nlm.nih.gov/pubmed/20847697?dopt=Abstract)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/1289)
- Ritelli M, Dordoni C, Venturini M, Chiarelli N, Quinzani S, Traversa M, Zoppi N, Vascellaro A, Wischmeijer A, Manfredini E, Garavelli L, Calzavara-Pinton P, Colombi M. Clinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations. Orphanet J Rare Dis. 2013 Apr 12;8:58. doi: 10.1186/1750-1172-8-58. (http://www.ncbi.nlm.nih.gov/pubmed/23587214?dopt=Abstract)
- Schwarze U, Atkinson M, Hoffman GG, Greenspan DS, Byers PH. Null alleles of the COL5A1 gene of type V collagen are a cause of the classical forms of Ehlers-Danlos syndrome (types I and II). Am J Hum Genet. 2000 Jun;66(6):1757-65. Epub 2000 May 4. (http://www.ncbi.nlm.nih.gov/pubmed/10796876?dopt=Abstract)
- Symoens S, Malfait F, Renard M, André J, Hausser I, Loeys B, Coucke P, De Paepe A. COL5A1 signal peptide mutations interfere with protein secretion and cause classic Ehlers-Danlos syndrome. Hum Mutat. 2009 Feb;30(2):E395-403. doi: 10.1002/humu.20887. (http://www.ncbi.nlm.nih.gov/pubmed/18972565?dopt=Abstract)
- Symoens S, Syx D, Malfait F, Callewaert B, De Backer J, Vanakker O, Coucke P, De Paepe A. Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria. Hum Mutat. 2012 Oct;33(10):1485-93. doi: 10.1002/humu.22137. Epub 2012 Jul 5. (http://www.ncbi.nlm.nih.gov/pubmed/22696272?dopt=Abstract)
- Wenstrup RJ, Florer JB, Willing MC, Giunta C, Steinmann B, Young F, Susic M, Cole WG. COL5A1 haploinsufficiency is a common molecular mechanism underlying the classical form of EDS. Am J Hum Genet. 2000 Jun;66(6):1766-76. Epub 2000 Apr 24. (http://www.ncbi.nlm.nih.gov/pubmed/10777716?dopt=Abstract)
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
See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.