matrilin-3 (MATN3)

Function

• major component of the extracellular matrix of cartilage
• may play a role in the formation of extracellular filamentous networks
• can form homooligomers (monomers, dimers, trimers & tetramers) & heterooligomers with matrilin-1 (putative)

interacts with COMP

Structure

• contains 4 EGF-like domains
• contains 1 VWFA domain

Compartment

secreted

Expression

• expressed only in cartilagenous tissues, such as vertebrae, ribs & shoulders

Pathology

• defects in MATN3 are the cause of
  • multiple epiphyseal dysplasia type 5
  • spondyloepimetaphyseal dysplasia MATN3-related
• genetic variations in MATN3 are associated with susceptibility to osteoarthritis type 2

More general terms

• matrilin

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=4148
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:4148
• OMIM: https://mirror.omim.org/entry/140600
• OMIM: https://mirror.omim.org/entry/602109
• OMIM: https://mirror.omim.org/entry/607078
• OMIM: https://mirror.omim.org/entry/608728
• UniProt: http://www.uniprot.org/uniprot/O15232.html