Gene: VCAN

Alternate names for this Gene: CSPG2|ERVR|GHAP|PG-M|WGN|WGN1

Gene Summary: 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.

Gene is located in Chromosome: 5

Location in Chromosome : 5q14.2-q14.3

Description of this Gene: versican

Type of Gene: protein-coding

Gene: VCAN-AS1

Alternate names for this Gene:

Gene Summary:

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rs80356553 in VCAN;VCAN-AS1 gene and Hyaloideoretinal degeneration of Wagner PMID 17035272 2007 Clinical characterisation and molecular analysis of Wagner syndrome.

PMID 16636652 2006 Identification of the genetic defect in the original Wagner syndrome family.

PMID 23571384 2013 De novo splice mutation in the versican gene in a family with Wagner syndrome.

PMID 19901218 2009 Mutational hot spot potential of a novel base pair mutation of the CSPG2 gene in a family with Wagner syndrome.

PMID 24174867 2013 A family with Wagner syndrome with uveitis and a new versican mutation.