Collagen VI (ColVI) is a type of collagen primarily associated with the extracellular matrix of skeletal muscle.[1] ColVI maintains regularity in muscle function and stabilizes the cell membrane.[2] It is synthesized by a complex, multistep pathway that leads to the formation of a unique network of linked microfilaments located in the extracellular matrix (ECM). ColVI plays a vital role in numerous cell types, including chondrocytes, neurons, myocytes, fibroblasts, and cardiomyocytes.[3] ColVI molecules are made up of three alpha chains: α1(VI), α2(VI), and α3(VI).[4] It is encoded by 6 genes: COL6A1, COL6A2, COL6A3, COL6A4, COL6A5, and COL6A6.[3] 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.[5]
The first two alpha chains subunits of ColVI have a molecular weight of 140-150 KDa and the third polypeptide chain is larger with a molecular weight of 250-300kDa.[5] ColVI 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.[5]
^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.
^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. S2CID 45028337.
^ abCollagen VI at a glance
Matilde Cescon, Francesca Gattazzo, Peiwen Chen, Paolo Bonaldo
J Cell Sci 2015 128: 3525-3531; doi: 10.1242/jcs.169748
^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.
^ abcChen 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.
CollagenVI (ColVI) is a type of collagen primarily associated with the extracellular matrix of skeletal muscle. ColVI maintains regularity in muscle function...
Collagen (/ˈkɒlədʒən/) is the main structural protein in the extracellular matrix found in the body's various connective tissues. As the main component...
exercise. Another study demonstrated that skeletal muscle fibers of collagenVI in knockout mice showed signs of degeneration due to an insufficiency...
which type of collagen is affected. Bethlem myopathy 1 (BTHLM1) is caused by a mutation in one of the three genes coding for type VIcollagen. These include...
these two myopathies, mutations in collagenVI and XII genes result in deficient or dysfunctional microfibrillar collagen in the extracellular matrix of muscle...
Platelet glycoprotein VI (GPVI) is a glycoprotein receptor for collagen which is expressed in platelets. In humans, glycoprotein VI is encoded by the GP6...
ligaments may be linked to a fibrotic process associated with increased collagenVI, which could represent an adaptive and reparative process in response...
composed of glomerular matrix proteins such as collagen IV (α1 and α2 chains), collagen V, collagenVI, laminin A, B1, B2, fibronectin, and proteoglycans...
Ullrich congenital muscular dystrophy and Bethlem myopathy – defects in collagen (type VI and XII), results in progressive muscle weakness and initial hypermobility...
evidence that suggest tenascin X accelerates collagen fibril formation through an additive mechanism when collagenVI is present. In addition to tenascin X,...
preferentially binds collagens IV, VI and type XIII collagen, but also fibril-forming collagens. Specific binding sites in collagen I and IV have been identified...
classes of macromolecules; collagen (type I, II, VI, X collagen fibrils) and proteoglycans. The ratio and the proportion of collagen play an important role...
Claudio; Ferlini, Alessandra (2015-09-01). "Paternal germline mosaicism in collagenVI related myopathies". European Journal of Paediatric Neurology. 19 (5):...
"Dysfunction of Mitochondria and Sarcoplasmic Reticulum in the Pathogenesis of CollagenVI Muscular Dystrophies". Annals of the New York Academy of Sciences. 1147...
total mass, is made of: 60–85% collagen 60–80% collagen I 0–10% collagen III 2% collagen IV small amounts of collagens V, VI, and others 15–40% non-collagenous...
thoroughly everywhere within the muscle. Found to have type I, III, VI, and XII collagen. Connective tissue in skeletal muscle Endomysium Epimysium E. Passerieux...
tenascin-X deficiency: muscle weakness and contractures support overlap with collagenVI myopathies". American Journal of Medical Genetics. Part A. 143A (18):...
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