Interacts with FBLN1. Interacts with COMP.

Secreted, extracellular space, extracellular matrix.

Restricted to cartilages.

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.

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.

Belongs to the aggrecan/versican proteoglycan family.
Contains 1 C-type lectin domain.
Contains 1 EGF-like domain.
Contains 1 Ig-like V-type (immunoglobulin-like) domain.
Contains 4 Link domains.
Contains 1 Sushi (CCP/SCR) domain.

Entrez Gene: 403828 Dog

Entrez Gene: 176 Human

Entrez Gene: 11595 Mouse

Entrez Gene: 58968 Rat

Omim: 155760 Human

SwissProt: Q28343 Dog

SwissProt: P16112 Human

SwissProt: Q61282 Mouse

SwissProt: P07897 Rat

Unigene: 2159 Human

Unigene: 358571 Mouse

Unigene: 54503 Rat

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]