PRG4 gene

proteoglycan 4

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

The protein encoded by this gene is a large proteoglycan that is synthesized by chondrocytes located at the surface of articular cartilage and by some synovial lining cells. This protein contains both chondroitin sulfate and keratan sulfate glycosaminoglycans. It functions as a boundary lubricant at the cartilage surface and contributes to the elastic absorption and energy dissipation of synovial fluid. Mutations in this gene result in camptodactyly-arthropathy-coxa vara-pericarditis syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]

From UniProt:

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

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.

From NCBI Gene:

  • Camptodactyly arthropathy coxa vara pericarditis syndrome

From UniProt:

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. [MIM:208250]

Cytogenetic Location: 1q31.1, which is the long (q) arm of chromosome 1 at position 31.1

Molecular Location: base pairs 186,296,273 to 186,314,562 on chromosome 1 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 1q31.1, which is the long (q) arm of chromosome 1 at position 31.1
  • CACP
  • HAPO
  • JCAP
  • MSF
  • SZP