Recombinant Human Aggrecan core protein (ACAN), Truncated

Uniprot Id

P16112

Target Species

Human

Target Name

ACAN

Target Full Name

Aggrecan core protein

Target 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.

Target Involvement

Spondyloepiphyseal dysplasia type Kimberley (SEDK); Spondyloepimetaphyseal dysplasia, aggrecan type (SEMDAG); Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans (SSOAOD)

Target Subcellular Location

Secreted, extracellular space, extracellular matrix.

Target Protein Families

Aggrecan/versican proteoglycan family

Target Tissue Specificity

Restricted to cartilages.

Target Synonyms

ACAN; AGC1; CSPG1; MSK16; Aggrecan core protein; Cartilage-specific proteoglycan core protein; CSPCP; Chondroitin sulfate proteoglycan core protein 1; Chondroitin sulfate proteoglycan 1) [Cleaved into: Aggrecan core protein 2]

Target Background

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.