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Proteoglycans gene family

Reviewed January 2010

What are the proteoglycans genes?

The genes in this family provide instructions for making proteins called proteoglycans. A proteoglycan is a molecule that is made up of a core protein attached to one or more sugar molecules called glycosaminoglycan (GAG) chains. Some functions of proteoglycans are determined by their GAG chains.

Proteoglycans can be divided into two classes based on their cellular location: cell surface proteoglycans and extracellular matrix proteoglycans. Cell surface proteoglycans are anchored to the cell membrane, where they interact with other proteins such as growth factors and signaling proteins that are important for cell growth and maintenance. Extracellular matrix proteoglycans are found in the extracellular matrix, which is the intricate lattice of proteins and other molecules that forms in the spaces between cells. These proteoglycans interact with other proteins to facilitate the assembly of the extracellular matrix and ensure its stability. The two classes of proteoglycans are further subdivided into groups based on their core proteins.

Changes in proteoglycan structure and function are associated with several disorders. The signs and symptoms of these disorders vary depending on the proteoglycan gene that is altered. For example, mutations in the DCN gene cause congenital stromal corneal dystrophy, a condition that results in visual impairment, while mutations in the COL9A2 gene cause a disorder of bone development called multiple epiphyseal dysplasia.

Which genes are included in the proteoglycans gene family?

The HUGO Gene Nomenclature Committee (HGNC) provides a list of genes in the proteoglycans familyThis link leads to a site outside Genetics Home Reference..

Genetics Home Reference summarizes the normal function and health implications of these members of the proteoglycans gene family: ACAN, COL9A1, COL9A2, COL9A3, DCN, GPC3, SMC3, and VCAN.

What conditions are related to genes in the proteoglycans gene family?

Where can I find additional information about the proteoglycans gene family?

Where can I find general information about genes and gene families?

The Handbook provides basic information about genetics in clear language.

What glossary definitions help with understanding the proteoglycans gene family?

cell ; cell membrane ; collagen ; congenital ; dysplasia ; extracellular ; extracellular matrix ; gene ; heparan sulfate ; leucine ; molecule ; protein ; proteoglycan ; sulfate

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

References (4 links)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

 
Reviewed: January 2010
Published: December 16, 2014