collagen type II alpha 1 chain
Dernière mise à jour 20 Dec 2024
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The COL2A1 gene provides instructions for making the basic component of type II collagen, called the alpha-1(II) chain. Type II collagen adds structure and strength to connective tissues and plays an important role in the normal development of joints, eyes, and the inner ear.
Normal function
The COL2A1 gene provides instructions for making the basic component of type II collagen, called the alpha-1(II) chain. Type II collagen adds structure and strength to connective tissues and plays an important role in the normal development of joints, eyes, and the inner ear.
Type II collagen is found primarily in cartilage, a tough, flexible tissue that makes up much of the skeleton during early development. Most cartilage is later replaced by bone, except for the cartilage that covers and protects the ends of bones and the cartilage that is present in the nose and external ears. Type II collagen is particularly abundant in a form of cartilage known as hyaline cartilage, which is found in the developing skeleton, joints, and at the end of the long bones of the arms and legs where new bone is produced (growth plates). Type II collagen is also part of the inner ear, the clear gel that fills the eyeball (the vitreous), and the center portion (nucleus pulposus) of the discs between the bones of the spine (vertebrae).
To construct type II collagen, three alpha-1(II) chains twist together to form a procollagen molecule. Procollagen molecules are then processed by enzymes in the cell. Once processed, the modified collagen molecules leave the cell and arrange themselves into long, thin fibrils that attach (bind) to one another in a lattice pattern (cross-link) in the spaces around cells. The cross-linkages result in the formation of very strong, mature type II collagen fibers.
Conditions referring to this gene or chromosome
Other names
collagen of cartilage
collagen, type II
collagen, type II, alpha 1
collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)
Related patient information and medicines
Patient information leaflet
Sclérodermie localisée
Localised scleroderma causes one or more patches of hard skin. There are different types. Generalised morphoea symptoms This is a ... Causes of localised scleroderma The cause is not clear. What is known is that cells called fibroblasts make too much of a protein called collagen. La collagène gets deposited in the skin, causing scarring and.
Patient information leaflet
Puis-je prendre le Candésartan et le Collagène ensemble ?
There are no known sign... It is generally considered safe to take these together. Why this happens Candesartan est a blood pressure medication (an angiotensin II receptor blocker) that works on the hormonal system controlling blood vessels. Collagen is a protein supplement used for skin, joint, and bone health. These two substances are processed.
Patient information leaflet
Puis-je prendre de la biotine et du collagène ensemble ?
Il y a no known harmful interactions between biotin and collagen. In fact, they are frequently taken together in 'hair, skin, and nails' supplements because they work in different ways to support the ... Why this happens Biotin is a B-vitamin (B7) that helps the body convert nutrients into energy and supports the production of keratin. Collagen.
Patient information leaflet
Puis-je prendre Adcal-D3 et Collagène ensemble ?
Il y a no known harmful interaction between Adcal-D3 and collagen supplements. In fact, they are often used together to support bone and joint health. Why this happens Adcal-D3 provides calcium and vitamin D3, while collagen provides amino acids. These substances are processed by the body through different pathways and do not interfere with each.
Patient information leaflet
Puis-je prendre Carbocistéine et Collagène ensemble ?
Why this happens Carbocisteine works by breaking down the chemical bonds in mucus to make it thinner and easier to cough up. Collagen is a protein used by the body for skin, joint, and bone health. These two substances are processed by the body through different pathways and do not interfere with how the other is absorbed, broken down, or used by.
Patient information leaflet
Puis-je prendre du collagène et du tamoxifène ensemble ?
There is no known direct interaction between collagen supplements and tamoxifen. Collagen is a protein found naturally in the body, and taking it as a supplement is generally considered safe alongside this medication. Why this happens Collagen is broken down into amino acids in the digestive tract, similar to eating protein-rich food. It does not.
Lectures complémentaires et références
- collagen type II alpha 1 chain; MedlinePlus, National Library of Medicine.
- Barat-Houari M, Sarrabay G, Gatinois V, Fabre A, Dumont B, Genevieve D, Touitou I. Mutation Update for COL2A1 Gene Variants Associated with Type II Collagenopathies. Hum Mutat. 2016 Jan;37(1):7-15. doi: 10.1002/humu.22915. Epub 2015 Oct 21.
- Borochowitz Z, Ornoy A, Lachman R, Rimoin DL. Achondrogenesis II-hypochondrogenesis: variability versus heterogeneity. Am J Med Genet. 1986 Jun;24(2):273-88. doi: 10.1002/ajmg.1320240208.
- Cheah KS, Stoker NG, Griffin JR, Grosveld FG, Solomon E. Identification and characterization of the human type II collagen gene (COL2A1). Proc Natl Acad Sci U S A. 1985 May;82(9):2555-9. doi: 10.1073/pnas.82.9.2555.
- Donoso LA, Edwards AO, Frost AT, Ritter R 3rd, Ahmad N, Vrabec T, Rogers J, Meyer D, Parma S. Clinical variability of Stickler syndrome: role of exon 2 of the collagen COL2A1 gene. Surv Ophthalmol. 2003 Mar-Apr;48(2):191-203. doi: 10.1016/s0039-6257(02)00460-5.
- Go SL, Maugeri A, Mulder JJ, van Driel MA, Cremers FP, Hoyng CB. Autosomal dominant rhegmatogenous retinal detachment associated with an Arg453Ter mutation in the COL2A1 gene. Invest Ophthalmol Vis Sci. 2003 Sep;44(9):4035-43. doi: 10.1167/iovs.02-0736.
- Gregersen PA, Savarirayan R. Type II Collagen Disorders Overview. 2019 Apr 25 [updated 2024 Oct 24]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK540447/
- Hoornaert KP, Marik I, Kozlowski K, Cole T, Le Merrer M, Leroy JG, Coucke PJ, Sillence D, Mortier GR. Czech dysplasia metatarsal type: another type II collagen disorder. Eur J Hum Genet. 2007 Dec;15(12):1269-75. doi: 10.1038/sj.ejhg.5201913. Epub 2007 Aug 29.
- Kannu P, Bateman J, Savarirayan R. Clinical phenotypes associated with type II collagen mutations. J Paediatr Child Health. 2012 Feb;48(2):E38-43. doi: 10.1111/j.1440-1754.2010.01979.x. Epub 2011 Feb 18.
- Kannu P, Bateman JF, Randle S, Cowie S, du Sart D, McGrath S, Edwards M, Savarirayan R. Premature arthritis is a distinct type II collagen phenotype. Arthritis Rheum. 2010 May;62(5):1421-30. doi: 10.1002/art.27354.
- Korkko J, Cohn DH, Ala-Kokko L, Krakow D, Prockop DJ. Widely distributed mutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesis. Am J Med Genet. 2000 May 15;92(2):95-100. doi: 10.1002/(sici)1096-8628(20000515)92:23.0.co;2-9.
- Liu YF, Chen WM, Lin YF, Yang RC, Lin MW, Li LH, Chang YH, Jou YS, Lin PY, Su JS, Huang SF, Hsiao KJ, Fann CS, Hwang HW, Chen YT, Tsai SF. Type II collagen gene variants and inherited osteonecrosis of the femoral head. N Engl J Med. 2005 Jun 2;352(22):2294-301. doi: 10.1056/NEJMoa042480.
- Miyamoto Y, Matsuda T, Kitoh H, Haga N, Ohashi H, Nishimura G, Ikegawa S. A recurrent mutation in type II collagen gene causes Legg-Calve-Perthes disease in a Japanese family. Hum Genet. 2007 Jun;121(5):625-9. doi: 10.1007/s00439-007-0354-y. Epub 2007 Mar 30.
- Mortier GR, Weis M, Nuytinck L, King LM, Wilkin DJ, De Paepe A, Lachman RS, Rimoin DL, Eyre DR, Cohn DH. Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder. J Med Genet. 2000 Apr;37(4):263-71. doi: 10.1136/jmg.37.4.263.
- Nishimura G, Haga N, Kitoh H, Tanaka Y, Sonoda T, Kitamura M, Shirahama S, Itoh T, Nakashima E, Ohashi H, Ikegawa S. The phenotypic spectrum of COL2A1 mutations. Hum Mutat. 2005 Jul;26(1):36-43. doi: 10.1002/humu.20179.
- Prockop DJ. Type II collagen and avascular necrosis of the femoral head. N Engl J Med. 2005 Jun 2;352(22):2268-70. doi: 10.1056/NEJMp058072. No abstract available.
- Richards AJ, Baguley DM, Yates JR, Lane C, Nicol M, Harper PS, Scott JD, Snead MP. Variation in the vitreous phenotype of Stickler syndrome can be caused by different amino acid substitutions in the X position of the type II collagen Gly-X-Y triple helix. Am J Hum Genet. 2000 Nov;67(5):1083-94. doi: 10.1016/S0002-9297(07)62938-3. Epub 2000 Sep 25.
- Richards AJ, Meredith S, Poulson A, Bearcroft P, Crossland G, Baguley DM, Scott JD, Snead MP. A novel mutation of COL2A1 resulting in dominantly inherited rhegmatogenous retinal detachment. Invest Ophthalmol Vis Sci. 2005 Feb;46(2):663-8. doi: 10.1167/iovs.04-1017.
- Rodriguez-Olivas AO, Hernandez-Zamora E, Reyes-Maldonado E. Legg-Calve-Perthes disease overview. Orphanet J Rare Dis. 2022 Mar 15;17(1):125. doi: 10.1186/s13023-022-02275-z.
- Su P, Li R, Liu S, Zhou Y, Wang X, Patil N, Mow CS, Mason JC, Huang D, Wang Y. Age at onset-dependent presentations of premature hip osteoarthritis, avascular necrosis of the femoral head, or Legg-Calve-Perthes disease in a single family, consequent upon a p.Gly1170Ser mutation of COL2A1. Arthritis Rheum. 2008 Jun;58(6):1701-6. doi: 10.1002/art.23491.
- Tiller GE, Polumbo PA, Weis MA, Bogaert R, Lachman RS, Cohn DH, Rimoin DL, Eyre DR. Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type. Nat Genet. 1995 Sep;11(1):87-9. doi: 10.1038/ng0995-87.
- Unger S, Ferreira CR, Mortier GR, Ali H, Bertola DR, Calder A, Cohn DH, Cormier-Daire V, Girisha KM, Hall C, Krakow D, Makitie O, Mundlos S, Nishimura G, Robertson SP, Savarirayan R, Sillence D, Simon M, Sutton VR, Warman ML, Superti-Furga A. Nosology of genetic skeletal disorders: 2023 revision. Am J Med Genet A. 2023 May;191(5):1164-1209. doi: 10.1002/ajmg.a.63132. Epub 2023 Feb 13.
- Wilkin DJ, Artz AS, South S, Lachman RS, Rimoin DL, Wilcox WR, McKusick VA, Stratakis CA, Francomano CA, Cohn DH. Small deletions in the type II collagen triple helix produce kniest dysplasia. Am J Med Genet. 1999 Jul 16;85(2):105-12.
- Zabel B, Hilbert K, Stoss H, Superti-Furga A, Spranger J, Winterpacht A. A specific collagen type II gene (COL2A1) mutation presenting as spondyloperipheral dysplasia. Am J Med Genet. 1996 May 3;63(1):123-8. doi: 10.1002/(SICI)1096-8628(19960503)63:13.0.CO;2-P.
- Zankl A, Neumann L, Ignatius J, Nikkels P, Schrander-Stumpel C, Mortier G, Omran H, Wright M, Hilbert K, Bonafe L, Spranger J, Zabel B, Superti-Furga A. Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies. Am J Med Genet A. 2005 Feb 15;133A(1):61-7. doi: 10.1002/ajmg.a.30531.
- Zankl A, Zabel B, Hilbert K, Wildhardt G, Cuenot S, Xavier B, Ha-Vinh R, Bonafe L, Spranger J, Superti-Furga A. Spondyloperipheral dysplasia is caused by truncating mutations in the C-propeptide of COL2A1. Am J Med Genet A. 2004 Aug 30;129A(2):144-8. doi: 10.1002/ajmg.a.30222.
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