Matrilin-3 gene is mapped on chromosome 2p24-p23 that can form homo-tetramers as well as hetero-oligomers together with subunit of matrilin-1. It present in the cartilage extracellular matrix functions in the development and homeostasis of cartilage and bone. Particularly it is located in the extracellular matrix surrounding the cells that makes-up tendons and ligaments near the chondrocytes that is essential in bone formation in which spine, hips and limbs start with the formation of cartilage then converted into bone.
Matrilin-3 is a mandatory component of mature articular cartilage that restricted in chondrocytes from the tangential zone and upper middle cartilage zone therefore, it is an integral component of articular cartilage matrix and its augmented expression in osteoarthritis might be a cellular response to the modified microenvironment in the disease.
Matrilin-3 gene mutations implicated in multiple epiphyseal dysplasias a generalized skeletal dysplasia associated with morbidity in which joint deformity, joint pain, waddling gait and short stature are common sign and symptoms. It also associated in osteoarthritis and spondyloepimetaphyseal dysplasia.
Gene name: MATN3
Protein name: Matrilin-3