Aggrecan est un gène codé par le symbole ACAN. D'autres noms incluent: Aggrecan core protein; Cartilage-specific proteoglycan core protein; CSPCP; Chondroitin sulfate proteoglycan core protein 1; Chondroitin sulfate proteoglycan 1; ACAN; AGC1; CSPG1; MSK16. Aggrecan a une masse de 261.33kDa, une longueur d'acide aminé de 2530, et est impliqué dans les maladies: Spondyloepiphyseal dysplasia type Kimberley; Spondyloepimetaphyseal dysplasia, aggrecan type; Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans.
Nous proposons 8 Aggrecan kits ELISA pour la détection qualitative ou quantitative de Aggrecan à partir d'échantillons Humain, Souris, Rat et Lapin.
Informations sur les Gènes et les Protéines
Résumé UniProt
This proteoglycan is a major component of extracellular matrix of cartilagenous tissues. A major function of this protein is to resist compression in cartilage. It binds avidly to hyaluronic acid via an N-terminal globular region.
Résumé Entrez
This gene is a member of the aggrecan/versican proteoglycan family. The encoded protein is an integral part of the extracellular matrix in cartilagenous tissue and it withstands compression in cartilage. Mutations in this gene may be involved in skeletal dysplasia and spinal degeneration. Multiple alternatively spliced transcript variants that encode different protein isoforms have been observed in this gene.
Spécificité tissulaire
Restricted to cartilages.
Implication dans la maladie
Spondyloepiphyseal dysplasia type Kimberley: Spondyloepiphyseal dysplasias are a heterogeneous group of congenital chondrodysplasias that specifically affect epiphyses and vertebrae. The autosomal dominant SEDK is associated with premature degenerative arthropathy.
Spondyloepimetaphyseal dysplasia, aggrecan type: A bone disease characterized by severe short stature, macrocephaly, severe midface hypoplasia, short neck, barrel chest and brachydactyly. The radiological findings comprise long bones with generalized irregular epiphyses with widened metaphyses, especially at the knees, platyspondyly, and multiple cervical-vertebral clefts.
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans: An autosomal dominant disease characterized by short stature, advanced bone maturation, early-onset osteoarthritis, and mild dysmorphic features consisting of midface hypoplasia, brachydactyly, broad great toes, and lumbar lordosis. Other features include intervertebral disk disease and osteochondritis dissecans. Osteochondritis dissecans is defined as a separation of cartilage and subchondral bone from the surrounding tissue.
Similitudes de séquence
Belongs to the aggrecan/versican proteoglycan family.
Modification post-traductionnelle
Contains mostly chondroitin sulfate, but also keratan sulfate chains, N-linked and O-linked oligosaccharides. The release of aggrecan fragments from articular cartilage into the synovial fluid at all stages of human osteoarthritis is the result of cleavage by aggrecanase.
Localisation cellulaire
Secreted > Extracellular space > Extracellular matrix.
