Aggrecan (AGC) Antibody – Rabbit Polyclonal

ACAN: 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. Defects in ACAN are the cause of spondyloepiphyseal dysplasia type Kimberley (SEDK). 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. Defects in ACAN are the cause of spondyloepimetaphyseal dysplasia aggrecan type (SEMD-ACAN). 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. Defects in ACAN are the cause of osteochondritis dissecans short stature and early-onset osteoarthritis (OD). It is a type of osteochondritis defined as a separation of cartilage and subchondral bone from the surrounding tissue, primarily affecting the knee, ankle and elbow joints. It is clinically characterized by multiple osteochondritic lesions in knees and/or hips and/or elbows, disproportionate short stature and early-onset osteoarthritis. Belongs to the aggrecan/versican proteoglycan family. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: Cell adhesion; Extracellular matrix; Secreted; Secreted, signal peptide

Chromosomal Location of Human Ortholog: 7 D2|7 44.88 cM

Cellular Component: basement membrane; cell soma; extracellular region; extracellular space; neuron projection; proteinaceous extracellular matrix

Molecular Function: calcium ion binding; carbohydrate binding; extracellular matrix structural constituent; hyaluronic acid binding; metal ion binding; protein binding

Biological Process: cartilage condensation; cell adhesion; central nervous system development; chondrocyte development; collagen fibril organization; heart development; negative regulation of cell migration; proteoglycan biosynthetic process