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COL5A1 gene
URL of this page: https://medlineplus.gov/genetics/gene/col5a1/

COL5A1 gene

collagen type V alpha 1 chain

Normal Function

The COL5A1 gene provides instructions for making a component of type V collagen. Collagens are a family of proteins that strengthen and support many tissues in the body, including skin, ligaments, bones, tendons, and muscles.

A component of type V collagen called the pro-α1(V) chain is produced from the COL5A1 gene. Collagens begin as rope-like procollagen molecules that are each made up of three chains. Two combinations of chains can produce type V collagen: three pro-α1(V) chains or two pro-α1(V) chains and one pro-α2(V) chain (which is produced from the COL5A2 gene).

The triple-stranded procollagen molecules are processed by enzymes outside the cell to create mature collagen. The collagen molecules then arrange themselves into long, thin fibrils with another form of collagen, type I. Type V collagen regulates the width (diameter) of those fibrils. Studies suggest that type V collagen also controls the assembly of other types of collagen into fibrils in several tissues.

Health Conditions Related to Genetic Changes

Ehlers-Danlos syndrome

Mutations in the COL5A1 gene cause a form of Ehlers-Danlos syndrome called the classical type. Ehlers-Danlos syndrome is a group of disorders that affect the connective tissues that support the skin, bones, blood vessels, and many other organs and tissues. This form of the disorder is characterized by skin that is soft, highly stretchy (elastic), and fragile; abnormal scarring; and an unusually large range of joint movement (hypermobility). More than 100 COL5A1 gene mutations have been identified in people with classical Ehlers-Danlos syndrome. The mutations affect one copy of the gene in each cell, reducing the amount of pro-α1(V) chains that cells produce. As a result, fibrils containing type V and type I collagens in the skin and other tissues are disorganized and larger than usual. Researchers believe that the abnormal collagen weakens connective tissues throughout the body, which causes the signs and symptoms of classical Ehlers-Danlos syndrome.

More About This Health Condition

Carpal tunnel syndrome

MedlinePlus Genetics provides information about Carpal tunnel syndrome

More About This Health Condition

Keratoconus

MedlinePlus Genetics provides information about Keratoconus

More About This Health Condition

Other Names for This Gene

  • alpha 1 type V collagen preproprotein
  • CO5A1_HUMAN
  • collagen type V alpha 1
  • collagen, type V, alpha 1

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Gene and Variant Databases

References

  • Bowen JM, Sobey GJ, Burrows NP, Colombi M, Lavallee ME, Malfait F, Francomano CA. Ehlers-Danlos syndrome, classical type. Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):27-39. doi: 10.1002/ajmg.c.31548. Epub 2017 Feb 13. Citation on PubMed
  • 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. Citation on PubMed or Free article on PubMed Central
  • Malfait F, Francomano C, Byers P, Belmont J, Berglund B, Black J, Bloom L, Bowen JM, Brady AF, Burrows NP, Castori M, Cohen H, Colombi M, Demirdas S, De Backer J, De Paepe A, Fournel-Gigleux S, Frank M, Ghali N, Giunta C, Grahame R, Hakim A, Jeunemaitre X, Johnson D, Juul-Kristensen B, Kapferer-Seebacher I, Kazkaz H, Kosho T, Lavallee ME, Levy H, Mendoza-Londono R, Pepin M, Pope FM, Reinstein E, Robert L, Rohrbach M, Sanders L, Sobey GJ, Van Damme T, Vandersteen A, van Mourik C, Voermans N, Wheeldon N, Zschocke J, Tinkle B. The 2017 international classification of the Ehlers-Danlos syndromes. Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):8-26. doi: 10.1002/ajmg.c.31552. Citation on PubMed
  • 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. Citation on PubMed
  • 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. Citation on PubMed or Free article on PubMed Central
  • 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. doi: 10.1086/302933. Epub 2000 May 4. Citation on PubMed or Free article on PubMed Central
  • Symoens S, Malfait F, Renard M, Andre 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. Citation on PubMed
  • 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. Citation on PubMed
  • 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. doi: 10.1086/302930. Epub 2000 Apr 24. Citation on PubMed or Free article on PubMed Central

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