ACAN wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human ACAN wild-type allele is located in the vicinity of 15q26.1 and is approximately 72 kb in length. This allele, which encodes aggrecan core protein, is involved in cartilaginous extracellular matrix remodeling and the biomechanical properties of cartilage. Mutations in the gene are associated with the aggrecan and Kimberley types of spondyloepiphyseal dysplasia and short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans.

**Synonyms:** - AGC1 - AGCAN - Aggrecan 1 Gene - Aggrecan Proteoglycan Gene - Aggrecan wt Allele - CSPG1 - CSPGCP - Large Aggregating Proteoglycan Gene - MSK16 - SEDK - SSOAOD