Aliases for MATN1 Gene
External Ids for MATN1 Gene
Previous HGNC Symbols for MATN1 Gene
Previous GeneCards Identifiers for MATN1 Gene
This gene encodes a member of von Willebrand factor A domain containing protein family. This family of proteins are thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. Mutations of this gene have been associated with variety of inherited chondrodysplasias. [provided by RefSeq, Jul 2008]
GeneCards Summary for MATN1 Gene
MATN1 (Matrilin 1) is a Protein Coding gene. Diseases associated with MATN1 include Relapsing Polychondritis and Epidermolysis Bullosa Acquisita. Among its related pathways are ECM proteoglycans and Degradation of the extracellular matrix. Gene Ontology (GO) annotations related to this gene include calcium ion binding and extracellular matrix structural constituent. An important paralog of this gene is MATN4.
UniProtKB/Swiss-Prot Summary for MATN1 Gene
Cartilage matrix protein is a major component of the extracellular matrix of non-articular cartilage. It binds to collagen.