MATN3

MATN3
Identifiers
Aliases MATN3, DIPOA, EDM5, HOA, OADIP, OS2, matrilin 3
External IDs MGI: 1328350 HomoloGene: 1785 GeneCards: MATN3
RNA expression pattern
More reference expression data
Orthologs
Species Human Mouse
Entrez

4148

17182

Ensembl

ENSG00000132031

ENSMUSG00000020583

UniProt

O15232

O35701

RefSeq (mRNA)

NM_002381

NM_010770

RefSeq (protein)

NP_002372.1

NP_034900.4

Location (UCSC) Chr 2: 19.99 – 20.01 Mb Chr 12: 8.95 – 8.97 Mb
PubMed search [1] [2]
Wikidata
View/Edit HumanView/Edit Mouse

Matrilin-3 is a protein that in humans is encoded by the MATN3 gene.[3][4][5]

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.[5]

References

  1. "Human PubMed Reference:".
  2. "Mouse PubMed Reference:".
  3. 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.
  4. 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.
  5. 1 2 "Entrez Gene: MATN3 matrilin 3".

Further reading


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