NP_037359.3
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
239,235 Da
NCBI Official Full Name
aggrecan core protein isoform 2
NCBI Official Synonym Full Names
aggrecan
NCBI Official Synonym Symbols
AGC1; SEDK; AGCAN; CSPG1; MSK16; CSPGCP [Similar Products]
NCBI Protein Information
aggrecan core protein; large aggregating proteoglycan; cartilage-specific proteoglycan core protein; chondroitin sulfate proteoglycan core protein 1
UniProt Protein Name
Aggrecan core protein
UniProt Synonym Protein Names
Cartilage-specific proteoglycan core protein; CSPCP; Chondroitin sulfate proteoglycan core protein 1; Chondroitin sulfate proteoglycan 1
UniProt Synonym Gene Names
AGC1; CSPG1; MSK16; CSPCP; Chondroitin sulfate proteoglycan 1 [Similar Products]
UniProt Entry Name
PGCA_HUMAN
NCBI Summary for ACAN
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. [provided by RefSeq, Jul 2008]
UniProt Comments for ACAN
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: Secreted, signal peptide; Secreted; Cell adhesion; Extracellular matrix
Chromosomal Location of Human Ortholog: 15q26.1
Cellular Component: extracellular matrix; lysosomal lumen; proteinaceous extracellular matrix; Golgi lumen; extracellular region
Molecular Function: protein binding; metal ion binding; extracellular matrix structural constituent; hyaluronic acid binding; carbohydrate binding
Biological Process: keratan sulfate metabolic process; extracellular matrix disassembly; extracellular matrix organization and biogenesis; glycosaminoglycan metabolic process; carbohydrate metabolic process; keratan sulfate biosynthetic process; pathogenesis; keratan sulfate catabolic process; proteolysis; cell adhesion; skeletal development
Disease: Spondyloepiphyseal Dysplasia, Kimberley Type; Osteochondritis Dissecans, Short Stature, And Early-onset Osteoarthritis; Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Research Articles on ACAN
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Products associated with anti-ACAN antibody
Pathways associated with anti-ACAN antibody
Organs/Tissues associated with anti-ACAN antibody
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