Ontology highlight
ABSTRACT:
SUBMITTER: Gibson BG
PROVIDER: S-EPMC4924316 | biostudies-literature | 2016 Jun
REPOSITORIES: biostudies-literature
Gibson Beth G BG Briggs Michael D MD
Orphanet journal of rare diseases 20160628 1
The large chondroitin sulphated proteoglycan aggrecan (ACAN) is the most abundant non-collagenous protein in cartilage and is essential for its structure and function. Mutations in ACAN result in a broad phenotypic spectrum of non-lethal skeletal dysplasias including spondyloepimetaphyseal dysplasia, spondyloepiphyseal dysplasia, familial osteochondritis dissecans and various undefined short stature syndromes associated with accelerated bone maturation. However, very little is currently known ab ...[more]