MATN3

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Matrilin 3
Identifiers
Symbols MATN3 ; DIPOA; EDM5; HOA; OADIP; OS2
External IDs OMIM602109 MGI1328350 HomoloGene1785 GeneCards: MATN3 Gene
RNA expression pattern
PBB GE MATN3 206091 at tn.png
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 NP_034900
Location (UCSC) Chr 2:
20.19 – 20.21 Mb
Chr 12:
8.95 – 8.97 Mb
PubMed search [1] [2]

Matrilin-3 is a protein that in humans is encoded by the MATN3 gene.[1][2][3]

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.[3]

References[edit]

  1. ^ 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. 
  2. ^ 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. 
  3. ^ a b "Entrez Gene: MATN3 matrilin 3". 

External links[edit]

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