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Gene Review

COL6A3  -  collagen, type VI, alpha 3

Homo sapiens

Synonyms: Collagen alpha-3(VI) chain
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Disease relevance of COL6A3


High impact information on COL6A3

  • In some cases of both TGCT and PVNS, CSF1 is fused to COL6A3 (2q35) [5].
  • Mutations in COL6A3 are described in UCMD for the first time and illustrate the wide spectrum of phenotypes which can be caused by collagen VI deficiency [3].
  • Analysis of the patient's COL6A3 transcripts showed the presence of various mRNA species-one of which lacked several exons, including the exon containing the nonsense mutation [3].
  • Mutations in the three collagen VI genes COL6A1, COL6A2 and COL6A3 cause Bethlem myopathy and Ullrich congenital muscular dystrophy (UCMD) [2].
  • We demonstrate linkage to markers in this region, define the region of disease gene localization, and confirm by FISH analysis that COL6A3 is located within the interval of interest making COL6A3 a feasible candidate gene for the Bethlem myopathy [6].

Biological context of COL6A3


Anatomical context of COL6A3

  • Ultrastructural alterations of collagen VI in cultured fibroblasts and reduced collagen VI immunostaining in the papillary dermis and endomysium were detected in a patient with a mild form of Ullrich congenital muscular dystrophy caused by a COL6A3 gene mutation [11].
  • We undertook two prenatal diagnoses for UCMD in a consanguineous family where the disease was consistent with linkage to the COL6A3 locus and immunolabelling of collagen VI in the proband's skeletal muscle was severely reduced [12].
  • RESULTS: Haplotype analysis of DNA extracted from chorionic villus samples (CVS) from the initial at-risk pregnancy with markers encompassing COL6A3 demonstrated that this fetus had inherited the same haplotypes as the affected child, and immunolabelling of the at-risk CVS demonstrated the virtual absence of collagen VI [12].

Associations of COL6A3 with chemical compounds

  • We report here the identification of a G-->A mutation in the N-terminal globular domain-coding region of COL6A3 in a large American pedigree (19 affected, 12 unaffected), leading to the substitution of glycine by glutamic acid in the N2 motif, which is homologous to the type A domains of the von Willebrand factor [1].
  • COL6A3 was one of the most highly upregulated genes, and cultivation of cisplatin-sensitive cells in the presence of collagen VI protein promoted resistance in vitro [13].

Other interactions of COL6A3

  • These genes include a cluster of two genes coding for fibrillar collagens COL3A1 and COL5A2, and a third member of the collagen gene family: COL6A3 [14].
  • While the PAX3 gene dosage appeared unaffected, the COL6A3 gene was found to be deleted and triplicated, respectively [15].


  1. Missense mutation in a von Willebrand factor type A domain of the alpha 3(VI) collagen gene (COL6A3) in a family with Bethlem myopathy. Pan, T.C., Zhang, R.Z., Pericak-Vance, M.A., Tandan, R., Fries, T., Stajich, J.M., Viles, K., Vance, J.M., Chu, M.L., Speer, M.C. Hum. Mol. Genet. (1998) [Pubmed]
  2. Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy. Baker, N.L., Mörgelin, M., Peat, R., Goemans, N., North, K.N., Bateman, J.F., Lamandé, S.R. Hum. Mol. Genet. (2005) [Pubmed]
  3. Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy. Demir, E., Sabatelli, P., Allamand, V., Ferreiro, A., Moghadaszadeh, B., Makrelouf, M., Topaloglu, H., Echenne, B., Merlini, L., Guicheney, P. Am. J. Hum. Genet. (2002) [Pubmed]
  4. New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype. Pan, T.C., Zhang, R.Z., Sudano, D.G., Marie, S.K., Bönnemann, C.G., Chu, M.L. Am. J. Hum. Genet. (2003) [Pubmed]
  5. A landscape effect in tenosynovial giant-cell tumor from activation of CSF1 expression by a translocation in a minority of tumor cells. West, R.B., Rubin, B.P., Miller, M.A., Subramanian, S., Kaygusuz, G., Montgomery, K., Zhu, S., Marinelli, R.J., De Luca, A., Downs-Kelly, E., Goldblum, J.R., Corless, C.L., Brown, P.O., Gilks, C.B., Nielsen, T.O., Huntsman, D., van de Rijn, M. Proc. Natl. Acad. Sci. U.S.A. (2006) [Pubmed]
  6. Evidence for locus heterogeneity in the Bethlem myopathy and linkage to 2q37. Speer, M.C., Tandan, R., Rao, P.N., Fries, T., Stajich, J.M., Bolhuis, P.A., Jöbsis, G.J., Vance, J.M., Viles, K.D., Sheffield, K., James, C., Kahler, S.G., Pettenati, M., Gilbert, J.R., Denton, P.H., Yamaoka, L.H., Pericak-Vance, M.A. Hum. Mol. Genet. (1996) [Pubmed]
  7. Morphological classification of nuchal skin in human fetuses with trisomy 21, 18, and 13 at 12-18 weeks and in a trisomy 16 mouse. von Kaisenberg, C.S., Krenn, V., Ludwig, M., Nicolaides, K.H., Brand-Saberi, B. Anat. Embryol. (1998) [Pubmed]
  8. An NcoI RFLP associated with the gene encoding the alpha-3 chain of human type VI collagen (COL6A3). Brotherton, D., Chu, M.L., Humphries, S.E., Henney, A.M. Nucleic Acids Res. (1989) [Pubmed]
  9. Collagen VI involvement in Ullrich syndrome: a clinical, genetic, and immunohistochemical study. Mercuri, E., Yuva, Y., Brown, S.C., Brockington, M., Kinali, M., Jungbluth, H., Feng, L., Sewry, C.A., Muntoni, F. Neurology (2002) [Pubmed]
  10. Collagen type VI gene expression in the skin of trisomy 21 fetuses. von Kaisenberg, C.S., Brand-Saberi, B., Christ, B., Vallian, S., Farzaneh, F., Nicolaides, K.H. Obstetrics and gynecology. (1998) [Pubmed]
  11. Ultrastructural defects of collagen VI filaments in an Ullrich syndrome patient with loss of the alpha3(VI) N10-N7 domains. Squarzoni, S., Sabatelli, P., Bergamin, N., Guicheney, P., Demir, E., Merlini, L., Lattanzi, G., Ognibene, A., Capanni, C., Mattioli, E., Columbaro, M., Bonaldo, P., Maraldi, N.M. J. Cell. Physiol. (2006) [Pubmed]
  12. Prenatal diagnosis of Ullrich congenital muscular dystrophy using haplotype analysis and collagen VI immunocytochemistry. Brockington, M., Brown, S.C., Lampe, A., Yuva, Y., Feng, L., Jimenez-Mallebrera, C., Sewry, C.A., Flanigan, K.M., Bushby, K., Muntoni, F. Prenat. Diagn. (2004) [Pubmed]
  13. Remodeling of the extracellular matrix through overexpression of collagen VI contributes to cisplatin resistance in ovarian cancer cells. Sherman-Baust, C.A., Weeraratna, A.T., Rangel, L.B., Pizer, E.S., Cho, K.R., Schwartz, D.R., Shock, T., Morin, P.J. Cancer Cell (2003) [Pubmed]
  14. Marfan syndrome: exclusion of genetic linkage to five genes coding for connective tissue components in the long arm of chromosome 2. Kainulainen, K., Savolainen, A., Palotie, A., Kaitila, I., Rosenbloom, J., Peltonen, L. Hum. Genet. (1990) [Pubmed]
  15. Deletion or triplication of the alpha 3 (VI) collagen gene in three patients with 2q37 chromosome aberrations and symptoms of collagen-related disorders. Rauch, A., Pfeiffer, R.A., Trautmann, U. Clin. Genet. (1996) [Pubmed]
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