Collagen VI

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Collagen VI is a form of collagen primarily associated with the extracellular matrix of skeletal muscle.[1] Collagen VI is known to maintain muscle function regularity as well as cell membrane integrity.[2] Collagen VI molecules are made up of three alpha chains: α1(VI), α2(VI), and α3(VI).[3] It is associated with the genes COL6A1, COL6A2, COL6A3 and COL6A5. The chain lengths of α1(VI) and α2(VI) are about 1,000 amino acids. The chain length of α3(VI) is roughly a third larger than those of α1(VI) and α2(VI), and it consists of several spliced variants within the range of 2,500 to 3,100 amino acids.[4]

The first two alpha chains subunits of collagen VI have a molecular weight of 140-150 KDa and the third polypeptide chain is larger with a molecular weight of 250-300kDa.[4] Collagen VI is also found in the skin, lungs, blood vessels, cornea and intervertebral disc. It also forms part of the peripheral nerves, brain, myocardium and adipose tissue.[4] There has been recent discoveries of Collagen VI including Col64, Col65 and Col66. [5]


  1. It provides plants with structural support by forming a mesh of beaded microfilament.
  2. It plays an important role in cancer by acting as a chemotherapy resistance modulator [4]
  3. They are known to anchor the basement membrane of the skin to the extracellular matrix which occurs with the help of other collagens, proteoglycans, matrilines, fibronectin and glycoprotein 1.[6]

Defects are associated with Bethlem myopathy and Ullrich congenital muscular dystrophy.[7][8][9]


  1. ^ Merlini L, Angelin A, Tiepolo T, Braghetta P, Sabatelli P, Zamparelli A, Ferlini A, Maraldi NM, Bonaldo P, Bernardi P (April 2008). "Cyclosporin A corrects mitochondrial dysfunction and muscle apoptosis in patients with collagen VI myopathies". Proceedings of the National Academy of Sciences of the United States of America. 105 (13): 5225–9. doi:10.1073/pnas.0800962105. PMC 2278179. PMID 18362356.
  2. ^ Bernardi P, Bonaldo P (December 2008). "Dysfunction of mitochondria and sarcoplasmic reticulum in the pathogenesis of collagen VI muscular dystrophies". Annals of the New York Academy of Sciences. 1147: 303–11. doi:10.1196/annals.1427.009. PMID 19076452.
  3. ^ Pan TC, Zhang RZ, Arita M, Bogdanovich S, Adams SM, Gara SK, Wagener R, Khurana TS, Birk DE, Chu ML (April 2014). "A mouse model for dominant collagen VI disorders: heterozygous deletion of Col6a3 Exon 16". The Journal of Biological Chemistry. 289 (15): 10293–307. doi:10.1074/jbc.M114.549311. PMC 4036154. PMID 24563484.
  4. ^ a b c d Chen P, Cescon M, Bonaldo P (July 2013). "Collagen VI in cancer and its biological mechanisms". Trends in Molecular Medicine. 19 (7): 410–7. doi:10.1016/j.molmed.2013.04.001. PMID 23639582.
  5. ^ Cheng IH, Lin YC, Hwang E, Huang HT, Chang WH, Liu YL, Chao CY (June 2011). "Collagen VI protects against neuronal apoptosis elicited by ultraviolet irradiation via an Akt/phosphatidylinositol 3-kinase signaling pathway". Neuroscience. 183: 178–88. doi:10.1016/j.neuroscience.2011.03.057. PMID 21459131.
  6. ^ Lamandé SR, Bateman JF (October 2018). "Collagen VI disorders: Insights on form and function in the extracellular matrix and beyond". Matrix Biology. 71-72: 348–367. doi:10.1016/j.matbio.2017.12.008. PMID 29277723.
  7. ^ Lampe AK, Flanigan KM, Bushby KM, Hicks D (August 9, 2012). Collagen Type VI-Related Disorders. NBK1503. In Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Stephens K, et al., eds. (1993–2018). GeneReviews™ [Internet]. Seattle WA: University of Washington, Seattle.
  8. ^ Lampe AK, Bushby KM (September 2005). "Collagen VI related muscle disorders". Journal of Medical Genetics. 42 (9): 673–85. doi:10.1136/jmg.2002.002311. PMC 1736127. PMID 16141002.
  9. ^ Merlini L, Bernardi P (October 2008). "Therapy of collagen VI-related myopathies (Bethlem and Ullrich)". Neurotherapeutics. 5 (4): 613–8. doi:10.1016/j.nurt.2008.08.004. PMC 4514708. PMID 19019314.

Further reading[edit]

  • Sparks SE, Quijano-Roy S, Harper A, Rutkowski A, Gordon E, Hoffman EP, Pegoraro E (2012-08-23). "Congenital Muscular Dystrophy Overview". In Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Stephens K, Amemiya A, Lampe AK, Flanigan KM, Bushby KM, Hicks D. Gene Reviews. Seattle: University of Washington. NBK1291.