MATN3

Matrilin 3
Identifiers
Symbols	MATN3 ; EDM5; HOA
External IDs	Template:OMIM5 Template:MGI HomoloGene: 1785
Gene ontology Molecular function Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Biological process Template:GNF GO Template:GNF GO
RNA expression pattern
File:PBB GE MATN3 206091 at tn.png
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Matrilin 3, also known as MATN3, is a human 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. 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.

Further reading

• Wagener R, Kobbe B, Paulsson M (1997). "Primary structure of matrilin-3, a new member of a family of extracellular matrix proteins related to cartilage matrix protein (matrilin-1) and von Willebrand factor". FEBS Lett. 413 (1): 129–34. PMID 9287130.CS1 maint: Multiple names: authors list (link)
• Belluoccio D, Trueb B (1997). "Matrilin-3 from chicken cartilage". FEBS Lett. 415 (2): 212–6. PMID 9350998.
• Belluoccio D, Schenker T, Baici A, Trueb B (1998). "Characterization of human matrilin-3 (MATN3)". Genomics. 53 (3): 391–4. doi:10.1006/geno.1998.5519. PMID 9799608.CS1 maint: Multiple names: authors list (link)
• "Toward a complete human genome sequence". Genome Res. 8 (11): 1097–108. 1999. PMID 9847074.
• Chapman KL, Mortier GR, Chapman K; et al. (2001). "Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia". Nat. Genet. 28 (4): 393–6. doi:10.1038/ng573. PMID 11479597.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Frank S, Schulthess T, Landwehr R; et al. (2002). "Characterization of the matrilin coiled-coil domains reveals seven novel isoforms". J. Biol. Chem. 277 (21): 19071–9. doi:10.1074/jbc.M202146200. PMID 11896063.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Stefánsson SE, Jónsson H, Ingvarsson T; et al. (2003). "Genomewide scan for hand osteoarthritis: a novel mutation in matrilin-3". Am. J. Hum. Genet. 72 (6): 1448–59. PMID 12736871.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Jackson GC, Barker FS, Jakkula E; et al. (2004). "Missense mutations in the beta strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia". J. Med. Genet. 41 (1): 52–9. PMID 14729835.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Mäkitie O, Mortier GR, Czarny-Ratajczak M; et al. (2004). "Clinical and radiographic findings in multiple epiphyseal dysplasia caused by MATN3 mutations: description of 12 patients". Am. J. Med. Genet. A. 125 (3): 278–84. doi:10.1002/ajmg.a.20486. PMID 14994237.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Borochowitz ZU, Scheffer D, Adir V; et al. (2004). "Spondylo-epi-metaphyseal dysplasia (SEMD) matrilin 3 type: homozygote matrilin 3 mutation in a novel form of SEMD". J. Med. Genet. 41 (5): 366–72. PMID 15121775.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Mabuchi A, Haga N, Maeda K; et al. (2005). "Novel and recurrent mutations clustered in the von Willebrand factor A domain of MATN3 in multiple epiphyseal dysplasia". Hum. Mutat. 24 (5): 439–40. doi:10.1002/humu.9286. PMID 15459972.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Hecht JT, Hayes E, Haynes R, Cole WG (2005). "COMP mutations, chondrocyte function and cartilage matrix". Matrix Biol. 23 (8): 525–33. doi:10.1016/j.matbio.2004.09.006. PMID 15694129.CS1 maint: Multiple names: authors list (link)
• Otten C, Wagener R, Paulsson M, Zaucke F (2006). "Matrilin-3 mutations that cause chondrodysplasias interfere with protein trafficking while a mutation associated with hand osteoarthritis does not". J. Med. Genet. 42 (10): 774–9. doi:10.1136/jmg.2004.029462. PMID 16199550.CS1 maint: Multiple names: authors list (link)
• Cotterill SL, Jackson GC, Leighton MP; et al. (2006). "Multiple epiphyseal dysplasia mutations in MATN3 cause misfolding of the A-domain and prevent secretion of mutant matrilin-3". Hum. Mutat. 26 (6): 557–65. doi:10.1002/humu.20263. PMID 16287128.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Kimura K, Wakamatsu A, Suzuki Y; et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMID 16344560.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Eliasson GJ, Verbruggen G, Stefansson SE; et al. (2006). "Hand radiology characteristics of patients carrying the T(303)M mutation in the gene for matrilin-3". Scand. J. Rheumatol. 35 (2): 138–42. doi:10.1080/03009740500303215. PMID 16641049.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Maeda K, Horikoshi T, Nakashima E; et al. (2007). "MATN and LAPTM are parts of larger transcription units produced by intergenic splicing: intergenic splicing may be a common phenomenon". DNA Res. 12 (5): 365–72. doi:10.1093/dnares/dsi017. PMID 16769693.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Hills R, Mazzarella R, Fok K; et al. (2007). "Identification of an ADAMTS-4 cleavage motif using phage display leads to the development of fluorogenic peptide substrates and reveals matrilin-3 as a novel substrate". J. Biol. Chem. 282 (15): 11101–9. doi:10.1074/jbc.M611588200. PMID 17311924.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Leighton MP, Nundlall S, Starborg T; et al. (2007). "Decreased chondrocyte proliferation and dysregulated apoptosis in the cartilage growth plate are key features of a murine model of epiphyseal dysplasia caused by a matn3 mutation". Hum. Mol. Genet. 16 (14): 1728–41. doi:10.1093/hmg/ddm121. PMID 17517694.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)