alternative products:Additional isoforms seem to exist,developmental stage:Expression was detected in chondrocytes throughout the developing skeleton.,disease:Defects in ACAN are the cause of 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.,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 majo

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