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Genetics Home Reference: your guide to understanding genetic conditions
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COLPG gene family

Reviewed February 2008

What are the COLPG genes?

The COLPG genes provide instructions for making the protein component of large molecules called collagen 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. The COLPG gene family is a subset of a larger gene family known as the proteoglycan superfamily.

The many different types of proteoglycans are classified according to their core protein. The core protein produced by members of the COLPG gene family is collagen. Collagens are a family of proteins that strengthen and support connective tissues, such as skin, bone, cartilage, tendons, and ligaments. Collagen proteoglycans are major components of the extracellular matrix, which is an intricate lattice of proteins and other molecules that forms in the spaces between cells. The collagen proteoglycans bind to a variety of other proteins in the extracellular matrix, including other forms of collagen.

Which genes are included in the COLPG gene family?

The HUGO Gene Nomenclature Committee (HGNC) provides a list of genes in the COLPG family (http://www.genenames.org/genefamilies/proteoglycan).

Genetics Home Reference summarizes the normal function and health implications of these members of the COLPG gene family: COL9A1, COL9A2, and COL9A3.

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

Genetics Home Reference includes these conditions related to genes in the COLPG gene family:

  • multiple epiphyseal dysplasia
  • Stickler syndrome

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

You may find the following resources about the COLPG gene family helpful.

  • Essentials of Glycobiology (first edition, 1999): Proteoglycans and Glycosaminoglycans (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=glyco&part=A737)

What glossary definitions help with understanding the COLPG gene family?

cartilage ; collagen ; extracellular ; extracellular matrix ; gene ; molecule ; protein ; proteoglycan

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

These sources were used to develop the Genetics Home Reference summary for the COLPG gene family.

  • Li D, Clark CC, Myers JC. Basement membrane zone type XV collagen is a disulfide-bonded chondroitin sulfate proteoglycan in human tissues and cultured cells. J Biol Chem. 2000 Jul 21;275(29):22339-47. (http://www.ncbi.nlm.nih.gov/pubmed/10791950?dopt=Abstract)
  • Amenta PS, Scivoletti NA, Newman MD, Sciancalepore JP, Li D, Myers JC. Proteoglycan-collagen XV in human tissues is seen linking banded collagen fibers subjacent to the basement membrane. J Histochem Cytochem. 2005 Feb;53(2):165-76. (http://www.ncbi.nlm.nih.gov/pubmed/15684329?dopt=Abstract)
  • van der Rest M, Mayne R. Type IX collagen proteoglycan from cartilage is covalently cross-linked to type II collagen. J Biol Chem. 1988 Feb 5;263(4):1615-8. (http://www.ncbi.nlm.nih.gov/pubmed/3123475?dopt=Abstract)

 

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? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: February 2008
Published: May 20, 2013