ACAN
GeneName
ACAN
Summary
ACAN, also known as aggrecan, AGC1, or aggrecan core protein, is a large aggregating proteoglycan predominantly found in the extracellular matrix of cartilage and the central nervous system. With a mass of 261 kDa, it plays a vital role in providing structural support and resilience to tissues through its ability to bind water and form aggregates with hyaluronic acid. ACAN is involved in various biological processes, including cell adhesion, skeletal system development, and central nervous system development. It is also associated with the perineuronal net and synaptic structures, highlighting its importance in neural architecture and function.
Importance
ACAN is relevant to: - Cartilage health and integrity, influencing conditions such as osteoarthritis due to its role in maintaining the extracellular matrix. - Central nervous system function and development, which may have implications in neurodegenerative diseases. - Cell adhesion mechanisms, impacting tissue organisation and repair processes. - The regulation of proteolytic processes, which can affect various physiological and pathological states.
Top Products
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Abcam Product Citation Summary
The data indicates that ACAN is primarily studied in the context of cartilage and chondrogenesis, particularly in human chondrocytes and articular cartilage. The use of various applications such as western blotting and immunohistochemistry highlights the importance of ACAN in understanding osteoarthritis progression and chondrogenic marker expression.
Abcam Product Citation Table
Developmental stage
Expression was detected in chondrocytes throughout the developing skeleton.
Domain
Two globular domains, G1 and G2, comprise the N-terminus of the proteoglycan, while another globular region, G3, makes up the C-terminus. G1 contains Link domains and thus consists of three disulfide-bonded loop structures designated as the A, B, B' motifs. G2 is similar to G1. The keratan sulfate (KS) and the chondroitin sulfate (CS) attachment domains lie between G2 and G3.
Function
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.
Involvement in disease
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Spondyloepimetaphyseal dysplasia, aggrecan type
SEMDAG
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
SSOAOD
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.
None
The disease is caused by variants affecting the gene represented in this entry.
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.
Sequence Similarities
Belongs to the aggrecan/versican proteoglycan family.
Tissue Specificity
Detected in fibroblasts (at protein level) (PubMed:36213313). Restricted to cartilage (PubMed:7524681).
Cellular localization
- Secreted
- Extracellular space
- Extracellular matrix
Alternative names
AGC1, CSPG1, MSK16, ACAN, Aggrecan core protein, Cartilage-specific proteoglycan core protein, Chondroitin sulfate proteoglycan core protein 1, CSPCP, Chondroitin sulfate proteoglycan 1