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Matrilin 3 (MATN3)

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EDM5; HOA

Matrilin 3 (MATN3)
CCC E148
HGNC 6909
MGI 1328350
PubMed 9799608
RGD 1305085
UniProt O15232
Wiki MATN3
Matrilin-3 is a member of von Willebrand factor A domain containing protein family. The matrilins represent a subfamily of extracellular matrix proteins containing the von Willebrand factor type A (vWFA)-like domain. (The vWFA-like domain was first described in von Willebrand factor, where it plays a key role in promoting platelet adhesion to the subendothelium. The MATN3 cDNA encodes a predicted 486-amino acid protein that shares 83% identity with the mouse protein. By Northern blot analysis, MATN3 was detected as a 2.8-kb mRNA in all cartilaginous tissues tested, but was not detected in any noncartilaginous tissues. It was also produced in vitro by primary chondrocytes isolated from articular cartilage; however, dedifferentiated chondrocytes of the third passage did not express any MATN3.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Matrilin 3 (MATN3) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Matrilin 3 (MATN3) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Matrilin 3 (MATN3) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Matrilin 3 (MATN3) CLIA Kit Customized Service Offer
n/a ELISA Kit for Matrilin 3 (MATN3) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Matrilin 3 (MATN3) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Matrilin 3 (MATN3) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Matrilin 3 (MATN3) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Matrilin 3 (MATN3) CLIA Kit Customized Service Offer
n/a ELISA Kit for Matrilin 3 (MATN3) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Matrilin 3 (MATN3) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Matrilin 3 (MATN3) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Matrilin 3 (MATN3) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Matrilin 3 (MATN3) CLIA Kit Customized Service Offer
n/a ELISA Kit for Matrilin 3 (MATN3) ELISA Kit Customized Service Offer
  1. "Characterization of human matrilin-3 (MATN3)."Genomics 53:391-394(1998) [PubMed] [Europe PMC] [Abstract]
  2. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4." Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  4. "Matrilin-3 from chicken cartilage."FEBS Lett. 415:212-216(1997) [PubMed] [Europe PMC] [Abstract]
  5. "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. 413:129-134(1997) [PubMed] [Europe PMC] [Abstract]
  6. "Interactions between the cartilage oligomeric matrix protein and matrilins. Implications for matrix assembly and the pathogenesis of chondrodysplasias."J. Biol. Chem. 279:25294-25298(2004) [PubMed] [Europe PMC] [Abstract]
  7. "Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia."Nat. Genet. 28:393-396(2001) [PubMed] [Europe PMC] [Abstract]
  8. "Genomewide scan for hand osteoarthritis: a novel mutation in matrilin-3."Am. J. Hum. Genet. 72:1448-1459(2003) [PubMed] [Europe PMC] [Abstract]
  9. "Familial multiple epiphyseal dysplasia due to a matrilin-3 mutation: further delineation of the phenotype including 40 years follow-up."Am. J. Med. Genet. A 120:490-497(2003) [PubMed] [Europe PMC] [Abstract]
  10. "Novel and recurrent mutations clustered in the von Willebrand factor A domain of MATN3 in multiple epiphyseal dysplasia."Hum. Mutat. 24:439-440(2004) [PubMed] [Europe PMC] [Abstract]
  11. "Missense mutations in the beta strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia."J. Med. Genet. 41:52-59(2004) [PubMed] [Europe PMC] [Abstract]
  12. "Spondylo-epi-metaphyseal dysplasia (SEMD) matrilin 3 type: homozygote matrilin 3 mutation in a novel form of SEMD."J. Med. Genet. 41:366-372(2004) [PubMed] [Europe PMC] [Abstract]
  13. "Mutation in the von Willebrand factor-A domain is not a prerequisite for the MATN3 mutation in multiple epiphyseal dysplasia."Am. J. Med. Genet. A 136:285-286(2005) [PubMed] [Europe PMC] [Abstract]
  14. "Multiple epiphyseal dysplasia mutations in MATN3 cause misfolding of the A-domain and prevent secretion of mutant matrilin-3."Hum. Mutat. 26:557-565(2005) [PubMed] [Europe PMC] [Abstract]
  15. "Pseudoachondroplasia and multiple epiphyseal dysplasia: A 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution."Hum. Mutat. 33:144-157(2012) [PubMed] [Europe PMC] [Abstract]