collagen type V alpha 1 chain
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L 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.
Normal function
L 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.
Conditions referring to this gene or chromosome
Altri nomi
alpha 1 type V collagen preproprotein
CO5A1_HUMAN
collagen type V alpha 1
collagen, type V, alpha 1
Related patient information and medicines
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Posso assumere Collagene e Omega-3 insieme?
There are no known harmful interactions between collagen and omega-3 supplements. Perché succede Collagen is a protein that is broken down into amino acids in dello digestive tract, while omega-3 is a fatty acid. ...hecker helps you check whether your prescriptions, over-the-counter medicines, and supplements are safe to take togetherDisclaimer.
Ulteriori letture e riferimenti
- collagen type V alpha 1 chain; MedlinePlus, National Library of Medicine.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
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