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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. Note: This description may include information from UniProtKB.
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| Protein type: Secreted; Cell adhesion; Secreted, signal peptide; Extracellular matrix |
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Cellular Component: extracellular matrix; lysosomal lumen; proteinaceous extracellular matrix; Golgi lumen; extracellular region
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Molecular Function: protein binding; extracellular matrix structural constituent; metal ion binding; hyaluronic acid binding; carbohydrate binding
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Biological Process: keratan sulfate metabolic process; glycosaminoglycan metabolic process; keratan sulfate biosynthetic process; carbohydrate metabolic process; keratan sulfate catabolic process; cell adhesion; proteolysis; skeletal development
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Reference #:
P16112 (UniProtKB)
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| Alt. Names/Synonyms: ACAN; AGC1; AGCAN; aggrecan; Aggrecan core protein; Aggrecan core protein 2; Cartilage-specific proteoglycan core protein; Chondroitin sulfate proteoglycan 1; Chondroitin sulfate proteoglycan core protein 1; CSPCP; CSPG1; CSPGCP; large aggregating proteoglycan; MSK16; PGCA; SEDK |
| Gene Symbols: ACAN |
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Molecular weight: 250,193 Da
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Basal Isoelectric point: 4.1
Predict pI for various phosphorylation states
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