品质保障》

产品介绍background:
Aggrecan is a member of a family of large, aggregating proteoglycans (also including versican, brevican and neurocan) which is found in articular cartilage. Aggrecan is composed of three major domains: G1, G2, and G3. Between the G1 and G2 domains there is an interglobulin region (IGD). The IGD region is the major site of cleavage by specific proteases like metalloproteinases (MMPs) and aggrecanase. Aggrecan cleavage has been associated with a number of degenerative diseases including rheumatoid arthritis and osteoarthritis. There is evidence that this family of proteoglycans modulates cell adhesion, migration, and axonal outgrowth in the CNS.

Function:
Aggrecan has been detected in neural precursor cells (neurospheres; Kabos et al, 2004) During differentiation, neurospheres downregulate Chondroitin sulfate proteoglycans (CSPGs). Proliferating neural precursors synthesize lecticans, including aggrecan, which are downregulated with differentiation; suggesting a link between CSPGs and CNS precursor biology.

Subunit:
Interacts with FBLN1. Interacts with COMP.

Subcellular Location:
Secreted, extracellular space, extracellular matrix.

Tissue Specificity:
Restricted to cartilages.

Post-translational modifications:
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.

DISEASE:
Spondyloepiphyseal dysplasia type Kimberley (SEDK) [MIM:608361]: 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. Note=The disease is caused by mutations affecting the gene represented in this entry.
Spondyloepimetaphyseal dysplasia aggrecan type (SEMD-ACAN) [MIM:612813]: 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. Note=The disease is caused by mutations affecting the gene represented in this entry.
Osteochondritis dissecans short stature and early-onset osteoarthritis (OD) [MIM:165800]: 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. Note=The disease is caused by mutations affecting the gene represented in this entry.