Matrilin-3
Matrilin-3 is a matrilin protein that in humans is encoded by the MATN3 gene.[5][6][7]
| MATN3 | |||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | MATN3, DIPOA, EDM5, HOA, OADIP, OS2, matrilin 3, SEMDBCD | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 602109 MGI: 1328350 HomoloGene: 1785 GeneCards: MATN3 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||
| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||
References
- GRCh38: Ensembl release 89: ENSG00000132031 - Ensembl, May 2017
- GRCm38: Ensembl release 89: ENSMUSG00000020583 - Ensembl, May 2017
- "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- Wagener R, Kobbe B, Paulsson M (Oct 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. doi:10.1016/S0014-5793(97)00895-8. PMID 9287130. S2CID 44885277.
- Belluoccio D, Trueb B (Nov 1997). "Matrilin-3 from chicken cartilage". FEBS Lett. 415 (2): 212–6. doi:10.1016/S0014-5793(97)01126-5. PMID 9350998. S2CID 10734417.
- "Entrez Gene: MATN3 matrilin 3".
Further reading
- 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.
- Sanger Centre, The; Washington University Genome Sequencing Cente, The (1999). "Toward a complete human genome sequence". Genome Res. 8 (11): 1097–108. doi:10.1101/gr.8.11.1097. 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. S2CID 8316621.
- 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.
- 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. doi:10.1086/375556. PMC 1180305. PMID 12736871.
- 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. doi:10.1136/jmg.2003.011429. PMC 1757268. PMID 14729835.
- 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. S2CID 22407745.
- 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. doi:10.1136/jmg.2003.013342. PMC 1735768. PMID 15121775.
- 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. S2CID 29416307.
- 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.
- 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. PMC 1735938. PMID 16199550.
- 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. PMC 2726956. PMID 16287128.
- 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. PMC 1356129. PMID 16344560.
- 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. S2CID 19719710.
- 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.
- 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.
- 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. PMC 2674230. PMID 17517694.
This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.