aggrecan
עודכן לאחרונה 3 Mar 2023
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ה ACAN gene provides instructions for making the aggrecan protein. Aggrecan is a type of protein known as a proteoglycan, which means it has several sugar molecules attached to it. It is the most abundant proteoglycan in cartilage, a tough, flexible tissue that makes up much of the skeleton during early development. Most cartilage is later converted to bone (a process called ossification), except for the cartilage that continues to cover and protect the ends of bones and is present in the nose, airways, and external ears.
Normal function
ה ACAN gene provides instructions for making the aggrecan protein. Aggrecan is a type of protein known as a proteoglycan, which means it has several sugar molecules attached to it. It is the most abundant proteoglycan in cartilage, a tough, flexible tissue that makes up much of the skeleton during early development. Most cartilage is later converted to bone (a process called ossification), except for the cartilage that continues to cover and protect the ends of bones and is present in the nose, airways, and external ears.
Aggrecan attaches to the other components of cartilage, organizing the network of molecules that gives cartilage its strength. These interactions occur at a specific region of the aggrecan protein called the C-type lectin domain (CLD). Because of the attached sugars, aggrecan attracts water molecules and gives cartilage its gel-like structure. This feature enables the cartilage to resist compression, protecting bones and joints. Although its role is unclear, aggrecan affects bone development.
Conditions referring to this gene or chromosome
Other names
AGC1
AGCAN
aggrecan core protein
cartilage-specific proteoglycan core protein
chondroitin sulfate proteoglycan core protein 1
CSPG1
CSPGCP
large aggregating proteoglycan
MSK16
SEDK
קריאה נוספת והפניות
- aggrecan; MedlinePlus, National Library of Medicine.
- Aspberg A, Adam S, Kostka G, Timpl R, Heinegard D. Fibulin-1 is a ligand for the C-type lectin domains of aggrecan and versican. J Biol Chem. 1999 Jul 16;274(29):20444-9. doi: 10.1074/jbc.274.29.20444.
- Gentili C, Cancedda R. Cartilage and bone extracellular matrix. Curr Pharm Des. 2009;15(12):1334-48. doi: 10.2174/138161209787846739.
- Gleghorn L, Ramesar R, Beighton P, Wallis G. A mutation in the variable repeat region of the aggrecan gene (AGC1) causes a form of spondyloepiphyseal dysplasia associated with severe, premature osteoarthritis. Am J Hum Genet. 2005 Sep;77(3):484-90. doi: 10.1086/444401. Epub 2005 Jul 22.
- Olin AI, Morgelin M, Sasaki T, Timpl R, Heinegard D, Aspberg A. The proteoglycans aggrecan and Versican form networks with fibulin-2 through their lectin domain binding. J Biol Chem. 2001 Jan 12;276(2):1253-61. doi: 10.1074/jbc.M006783200.
- Stattin EL, Wiklund F, Lindblom K, Onnerfjord P, Jonsson BA, Tegner Y, Sasaki T, Struglics A, Lohmander S, Dahl N, Heinegard D, Aspberg A. A missense mutation in the aggrecan C-type lectin domain disrupts extracellular matrix interactions and causes dominant familial osteochondritis dissecans. Am J Hum Genet. 2010 Feb 12;86(2):126-37. doi: 10.1016/j.ajhg.2009.12.018. Epub 2010 Feb 4.
- Tompson SW, Merriman B, Funari VA, Fresquet M, Lachman RS, Rimoin DL, Nelson SF, Briggs MD, Cohn DH, Krakow D. A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C-type lectin domain of aggrecan. Am J Hum Genet. 2009 Jan;84(1):72-9. doi: 10.1016/j.ajhg.2008.12.001. Epub 2008 Dec 24.
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