ACAN mutations as a cause of familial short stature.
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ABSTRACT: Aggrecan, encoded by ACAN, is a major proteoglycan component of the extracellular matrix in the growth plate and articular cartilage. Aggrecan provides the hydrated gel structure important for the load-bearing properties of joints and plays a key role in cartilage and bone morphogenesis. At least 25 pathological ACAN mutations have been identified in patients with highly variable phenotypes of syndromic or non-syndromic short stature. This review provides an overview of the current understanding of ACAN and the clinical and genetic findings concerning aggrecan-associated diseases.
SUBMITTER: Dateki S
PROVIDER: S-EPMC5537209 | biostudies-other | 2017
REPOSITORIES: biostudies-other
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