Scientific background: |
MATN3(Matrilin-3) is a protein that in humans is encoded by the MATN3 gene. This gene encodes a member of von Willebrand factor A domain containing protein family. This family of proteins is thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. By fluorescence in situ hybridization, Belluoccio et al. (1998) mapped the human MATN3 gene to chromosome 2p24-p23. Wagener et al. (2000) mapped the mouse Matn3 gene to the proximal end of chromosome 12, linked to the genes Synd1, Apob, Dtnb, and Kif3c. The human homologs of all 5 of these genes map to 2p23, indicating considerable homology of synteny. This protein contains two von Willebrand factor A domains; it is present in the cartilage extracellular matrix and has a role in the development and homeostasis of cartilage and bone. Mutations in this gene result in multiple epiphyseal dysplasia. |
References: |
1. Belluoccio, D., Schenker, T., Baici, A., Trueb, B. Characterization of human matrilin-3 (MATN3). Genomics 53: 391-394, 1998.
2. Maeda, K., Nakashima, E., Horikoshi, T., Mabuchi, A., Ikegawa, S. Mutation in the von Willebrand factor-A domain is not a prerequisite for the MATN3 mutation in multiple epiphyseal dysplasia. (Letter) Am. J. Med. Genet. 136A: 285-286, 2005.
3. Wagener, R., Kobbe, B., Aszodi, A., Liu, Z., Beier, D. R., Paulsson, M. Structure and mapping of the mouse matrilin-3 gene (Matn3), a member of a gene family containing a U12-type AT-AC intron. Mammalian Genome 11: 85-90, 2000.
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