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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Gene Review: 

COL12A1  -  collagen, type XII, alpha 1

Homo sapiens

Synonyms: BA209D8.1, COL12A1L, Collagen alpha-1(XII) chain, DJ234P15.1
 
 
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Disease relevance of COL12A1

  • Because collagen molecules are important for tissue remodeling during physiologic growth and differentiation, both COL12A1 and COL4A5 constitute good candidate target genes in the pathogenesis of subungual exostosis [1].
 

High impact information on COL12A1

  • Rearrangement of the COL12A1 and COL4A5 genes in subungual exostosis: molecular cytogenetic delineation of the tumor-specific translocation t(X;6)(q13-14;q22) [1].
  • The results of these analyses demonstrated a clustering of the breakpoints to the regions harboring the collagen genes COL12A1 and COL4A5 in chromosome bands 6q13-14 and Xq22, respectively [1].

References

  1. Rearrangement of the COL12A1 and COL4A5 genes in subungual exostosis: molecular cytogenetic delineation of the tumor-specific translocation t(X;6)(q13-14;q22). Storlazzi, C.T., Wozniak, A., Panagopoulos, I., Sciot, R., Mandahl, N., Mertens, F., Debiec-Rychter, M. Int. J. Cancer (2006) [Pubmed]
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