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MATN3

MIM.602109 2p24-p23

Thursday 25 September 2003

Member of the matrilins.

MATN3 gene encoding the noncollagenous cartilage extracellular matrix protein matrilin-3.

Pathology

- germline mutations in multiple epiphyseal dysplasia (EDM5) (MIM.602109)
- germline mutations in susceptibility to osteoarthritis (12736871)
- germline mutations in autosomal recessive spondyloepimetaphyseal dysplasia (MIM.608728)