Aggrecan è un gene codificato dal simbolo ACAN. Altri nomi includono: Aggrecan core protein; Cartilage-specific proteoglycan core protein; CSPCP; Chondroitin sulfate proteoglycan core protein 1; Chondroitin sulfate proteoglycan 1; ACAN; AGC1; CSPG1; MSK16. Aggrecan ha una massa di 261.33kDa, una lunghezza di amminoacidi di 2530, ed è implicato nella malattia: Spondyloepiphyseal dysplasia type Kimberley; Spondyloepimetaphyseal dysplasia, aggrecan type; Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans.
Offriamo 8 Aggrecan ELISA kit per il rilevamento qualitativo o quantitativo di Aggrecan da campioni di Umano, Topo, Ratto e Coniglio.
Informazioni su geni e proteine
Riepilogo 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.
Sommario di 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.
Specificità del tessuto
Restricted to cartilages.
Coinvolgimento nella malattia
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.
Somiglianze di sequenza
Belongs to the aggrecan/versican proteoglycan family.
Modifica post-translazionale
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.
Posizione cellulare
Secreted > Extracellular space > Extracellular matrix.
