Aliases for ACAN Gene
External Ids for ACAN Gene
Previous HGNC Symbols for ACAN Gene
Previous GeneCards Identifiers for ACAN Gene
This gene is a member of the aggrecan/versican proteoglycan family. The encoded protein is an integral part of the extracellular matrix in cartilagenous tissue and it withstands compression in cartilage. Mutations in this gene may be involved in skeletal dysplasia and spinal degeneration. Multiple alternatively spliced transcript variants that encode different protein isoforms have been observed in this gene. [provided by RefSeq, Jul 2008]
GeneCards Summary for ACAN Gene
ACAN (Aggrecan) is a Protein Coding gene. Diseases associated with ACAN include Spondyloepimetaphyseal Dysplasia, Aggrecan Type and Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans. Among its related pathways are Defective ST3GAL3 causes MCT12 and EIEE15 and Integrin Pathway. Gene Ontology (GO) annotations related to this gene include calcium ion binding and extracellular matrix structural constituent. An important paralog of this gene is VCAN.
UniProtKB/Swiss-Prot Summary for ACAN Gene
This proteoglycan is a major component of extracellular matrix of cartilagenous tissues. A major function of this protein is to resist compression in cartilage. It binds avidly to hyaluronic acid via an N-terminal globular region.