Alpha-5
Alpha-5 is a protein that in humans is encoded by the ACAN gene. This protein 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. It contains chondroitin sulfate and keratan sulfate glycosaminoglycans.
Function[edit | edit source]
The ACAN gene provides instructions for making the alpha-5 protein. This protein is found in the extracellular matrix, which is a lattice-like network that provides structure and support to tissues and organs. The alpha-5 protein is specifically found in cartilage, a tough but flexible tissue that covers the ends of bones at joints. The protein helps the cartilage resist compression, absorb shock, and reduce friction between bones during movement.
Clinical significance[edit | edit source]
Mutations in the ACAN gene are associated with a variety of disorders, including spondyloepimetaphyseal dysplasia, Kim variant, and idiopathic short stature.
See also[edit | edit source]
References[edit | edit source]
External links[edit | edit source]
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Contributors: Prab R. Tumpati, MD
