3 Ontology Annotations
| GO Term | Gene Name |
|---|---|
| GO:0001501 | IPR030746 |
| GO:0002062 | IPR030746 |
| GO:0005578 | IPR030746 |
| Type: | Family | Name: | Matrilin-3 |
| Description: | Matrilin family consists of four non-collagenous extracellular matrix (ECM) proteins []. Matrilin-1 and matrilin-3 are expressed mainly in cartilage, while matrilin-2 and matrilin-4 are widely distributed in many connective tissues []. Typical matrilin has the similar domain structure with two von Willebrand factor A-like (VWA) domains interconnected by a variable number of epidermal growth factor-like (EGF) domains. The subunits form trimers or tetramers via a C-terminal alpha-helical coiled-coil domain [].Matrilin-3 has a modular structure comprising a von Willebrand factor A (vWFA) domain (A-domain), four epidermal growth factor (EGF)-like domains and a coiled-coil domain, which facilitates oligomerisation []. Mutations in the A-domain of matrilin-3 result in multiple epiphyseal dysplasia, a disorder characterised by irregular bone growth and early onset osteoarthritis []. Matrilin-3 plays a role in chondrocyte differentiation [, , ] and is a bone morphogenetic protein-2 antagonist []. | Short Name: | Matrilin-3 |
| GO Term | Gene Name |
|---|---|
| GO:0001501 | IPR030746 |
| GO:0002062 | IPR030746 |
| GO:0005578 | IPR030746 |
