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Genetics Home Reference: your guide to understanding genetic conditions
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B3GT gene family

Reviewed September 2013

What are the B3GT genes?

Genes in the B3GT gene family provide instructions for making enzymes that act as glycosyltransferases. Glycosyltransferases modify proteins by adding sugar molecules at specific locations through a process called glycosylation. These sugar molecules can be added directly to a protein or to other sugars already attached to the protein, forming sugar structures. Glycosylation plays an important role in protein function and can give proteins the ability to perform a wider variety of functions. If many sugars are involved, multiple glycosyltransferases are needed to complete the process of glycosylation on one protein.

Mutations in genes in the B3GT gene family disrupt the process of glycosylation and lead to conditions with a wide variety of signs and symptoms. For example, mutations in the B3GALTL gene cause a condition called Peters plus syndrome, which is characterized by eye abnormalities, short stature, intellectual disability, and distinctive facial features. It is unclear how the gene mutations lead to these features, but impaired glycosylation likely disrupts the function of many proteins, which may contribute to the varied signs and symptoms of Peters plus syndrome.

Which genes are included in the B3GT gene family?

The HUGO Gene Nomenclature Committee (HGNC) provides a list of genes in the B3GT family (http://www.genenames.org/genefamilies/B3GT).

Genetics Home Reference summarizes the normal function and health implications of these members of the B3GT gene family: B3GALTL and LFNG.

What conditions are related to genes in the B3GT gene family?

Genetics Home Reference includes these conditions related to genes in the B3GT gene family:

  • Peters plus syndrome
  • spondylocostal dysostosis

Where can I find additional information about the B3GT gene family?

You may find the following resources about the B3GT gene family helpful.

  • Molecular Biology of the Cell (fourth edition, 2002): Protein Glycosylation in the ER and Golgi Complex (http://www.ncbi.nlm.nih.gov/books/NBK21744/)
  • Biochemistry (fifth edition, 2002): Carbohydrates Can Be Attached to Proteins to Form Glycoproteins (http://www.ncbi.nlm.nih.gov/books/NBK22521/)
  • Essentials of Glycobiology (second edition, 2009): Glycosyltransferases and Glycan-processing Enzymes (http://www.ncbi.nlm.nih.gov/books/NBK1921/)

What glossary definitions help with understanding the B3GT gene family?

disability ; fucose ; gene ; glycosylation ; linkage ; protein ; short stature ; stature ; syndrome

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 B3GT gene family.

  • Narimatsu H. Human glycogene cloning: focus on beta 3-glycosyltransferase and beta 4-glycosyltransferase families. Curr Opin Struct Biol. 2006 Oct;16(5):567-75. Epub 2006 Sep 18. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16979334?dopt=Abstract)
  • Hashimoto K, Tokimatsu T, Kawano S, Yoshizawa AC, Okuda S, Goto S, Kanehisa M. Comprehensive analysis of glycosyltransferases in eukaryotic genomes for structural and functional characterization of glycans. Carbohydr Res. 2009 May 12;344(7):881-7. doi: 10.1016/j.carres.2009.03.001. Epub 2009 Mar 9. (http://www.ncbi.nlm.nih.gov/pubmed/19327755?dopt=Abstract)
  • Hansen SF, Bettler E, Rinnan A, Engelsen SB, Breton C. Exploring genomes for glycosyltransferases. Mol Biosyst. 2010 Oct;6(10):1773-81. doi: 10.1039/c000238k. Epub 2010 Jun 17. Review. (http://www.ncbi.nlm.nih.gov/pubmed/20556308?dopt=Abstract)
  • Togayachi A, Sato T, Narimatsu H. Comprehensive enzymatic characterization of glycosyltransferases with a beta3GT or beta4GT motif. Methods Enzymol. 2006;416:91-102. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17113861?dopt=Abstract)
  • Patel RY, Balaji PV. Fold-recognition and comparative modeling of human beta3GalT I, II, IV, V and VI and beta3GalNAcT I: prediction of residues conferring acceptor substrate specificity. J Mol Graph Model. 2007 Jul;26(1):255-68. Epub 2006 Dec 15. (http://www.ncbi.nlm.nih.gov/pubmed/17212986?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: September 2013
Published: July 21, 2014