| This gene is a member of the aggrecan/versican proteoglycan family. The protein encoded is a large chondroitin sulfate proteoglycan and is a major component of the extracellular matrix. This protein is involved in cell adhesion, proliferation, proliferation, migration and angiogenesis and plays a central role in tissue morphogenesis and maintenance. Mutations in this gene are the cause of Wagner syndrome type 1. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009],alternative products:Additional isoforms seem to exist,developmental stage:Disappears after the cartilage development.,disease:Defects in VCAN are the cause of Wagner syndrome type 1 (WGN1) [MIM:143200]. WGN is a dominantly inherited vitreoretinopathy characterized by an optically empty vitreous cavity with fibrillary condensations and a preretinal avascular membrane. Other optical features include progressive chorioretinal atrophy, perivascular sheating, subcapsular cataract and myopia. Systemic manifestations are absent in WGN.,function:May play a role in intercellular signaling and in connecting cells with the extracellular matrix. May take part in the regulation of cell motility, growth and differentiation. Binds hyaluronic acid.,online information:Versican,similarity:Belongs to the aggrecan/versican proteoglycan family.,similarity:Contains 1 C-type lectin domain.,similarity:Contains 1 Ig-like V-type (immunoglobulin-like) domain.,similarity:Contains 1 Sushi (CCP/SCR) domain.,similarity:Contains 2 EGF-like domains.,similarity:Contains 2 Link domains.,subunit:Interacts with FBLN1.,tissue specificity:Cerebral white matter. Isoform V0 and isoform V1 are expressed in normal brain, gliomas, medulloblastomas, schwannomas, neurofibromas, and meningiomas, isoform V2 is restricted to normal brain and gliomas, isoform V3 is found in all these tissues except medulloblastomas., |
