CSPG2: 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. Defects in VCAN are the cause of Wagner syndrome type 1 (WGN1). 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. Belongs to the aggrecan/versican proteoglycan family. 5 isoforms of the human protein are produced by alternative splicing.
Protein type: Secreted; Motility/polarity/chemotaxis; Secreted, signal peptide; Cell adhesion
Chromosomal Location of Human Ortholog: 5q14.3
Cellular Component: extracellular matrix; extracellular space; lysosomal lumen; proteinaceous extracellular matrix; intracellular membrane-bound organelle; membrane; Golgi lumen; extracellular region
Molecular Function: protein binding; glycosaminoglycan binding; extracellular matrix structural constituent; hyaluronic acid binding; calcium ion binding; carbohydrate binding
Biological Process: extracellular matrix organization and biogenesis; chondroitin sulfate biosynthetic process; central nervous system development; glycosaminoglycan metabolic process; multicellular organismal development; heart development; cell recognition; pathogenesis; glial cell migration; dermatan sulfate biosynthetic process; osteoblast differentiation; chondroitin sulfate metabolic process; chondroitin sulfate catabolic process; carbohydrate metabolic process; cell adhesion; skeletal development
Disease: Wagner Vitreoretinopathy
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