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PRG4

Function

Plays a role in boundary lubrication within articulating joints. Prevents protein deposition onto cartilage from synovial fluid by controlling adhesion-dependent synovial growth and inhibiting the adhesion of synovial cells to the cartilage surface.

Isoform F plays a role as a growth factor acting on the primitive cells of both hematopoietic and endothelial cell lineages.

Involvement in disease

Camptodactyly-arthropathy-coxa vara-pericarditis syndrome

CACP

An autosomal recessive disorder characterized by the association of congenital or early-onset camptodactyly and non-inflammatory arthropathy with synovial hyperplasia. Individuals with CACP have normal appearing joints at birth but with advancing age develop joint failure, non-inflammatory synoviocyte hyperplasia and subintimal fibrosis of the synovial capsule. Some patients also manifest progressive coxa vara deformity and/or non-inflammatory pericardial or pleural effusions.

None

The disease is caused by variants affecting the gene represented in this entry.

Post-translational modifications

N-glycosylated (PubMed:16335952).

O-glycosylated; contains glycosaminoglycan chondroitin sulfate and keratan sulfate. O-glycosylated with sialylated oligosaccharides which are predominantly represented by the monosialylated core type I structure, NeuNAcalpha2-3Galbeta1-3GalNAc, with smaller amounts of disialylated O-glycans (PubMed:25187573).

The disulfide bond between Cys-1146 and Cys-1403 is essential for protein cleavage.

Proteolytically cleaved by cathepsin CTSG.

Tissue Specificity

Highly expressed in synovial tissue, cartilage and liver and weakly in heart and lung. Isoform B is expressed in kidney, lung, liver, heart and brain. Isoform C and isoform D are widely expressed.

Cellular localization

Alternative names

MSF, SZP, PRG4, Proteoglycan 4, Lubricin, Megakaryocyte-stimulating factor, Superficial zone proteoglycan

swissprot:Q92954 omim:604283 entrezGene:10216