VCAN
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.
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.
Biological Process
Biological Process cell adhesion Source:ProtInc1 Publication
Biological Process cell recognition Source:ProtInc1 Publication
Biological Process central nervous system development Source:GO_Central1 Publication
Biological Process glial cell migration Source:BHF-UCL
Biological Process osteoblast differentiation Source:UniProtKB1 Publication
Biological Process skeletal system development Source:GO_Central1 Publication
Cellular Location
Secreted, extracellular space, extracellular matrix
Cell projection, cilium, photoreceptor outer segment
Secreted, extracellular space, extracellular matrix, interphotoreceptor matrix
Involvement in disease
Wagner vitreoretinopathy (WGVRP):
A rare 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.
PTM
Phosphorylated by FAM20C in the extracellular medium.
Proteolytically cleaved by ADAMTS5 and ADAMTS15 in the pericellular matrix surrounding myoblasts, facilitating myoblast contact and fusion which is required for skeletal muscle development and regeneration.