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Genetics Home Reference: your guide to understanding genetic conditions
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Glycosyltransferase family 8 domain containing gene family

Reviewed August 2013

What are the glycosyltransferase family 8 domain containing genes?

Genes in this family provide instructions for making enzymes that act as (or are predicted to act as) glycosyltransferases. Glycosyltransferases modify proteins by adding sugar molecules to them through a process called glycosylation. The sugar is transferred from one protein, called the donor, to another, called the acceptor. Some glycosyltransferases glycosylate themselves.

Glycosylation is critical for the normal function of the acceptor protein. For example, the LARGE protein, produced from a gene in this family, glycosylates a protein called alpha (α)-dystroglycan, which anchors cells in the correct position. Without glycosylation, α-dystroglycan loses its ability to anchor cells, which impairs normal muscle, brain, and eye development and leads to a severe condition called Walker-Warburg syndrome. Glycosylation by enzymes produced from other genes in this family is important for the storage of energy and cellular signaling.

Which genes are included in the glycosyltransferase family 8 domain containing gene family?

The HUGO Gene Nomenclature Committee (HGNC) provides an index of gene families (http://www.genenames.org/cgi-bin/genefamilies/) and their member genes.

Genetics Home Reference summarizes the normal function and health implications of this member of the glycosyltransferase family 8 domain containing gene family: LARGE.

What conditions are related to genes in the glycosyltransferase family 8 domain containing gene family?

Genetics Home Reference includes these conditions related to genes in the glycosyltransferase family 8 domain containing gene family:

  • Walker-Warburg syndrome

Where can I find additional information about the glycosyltransferase family 8 domain containing gene family?

You may find the following resources about the glycosyltransferase family 8 domain containing gene family helpful.

  • Molecular Cell Biology (fourth edition, 2000): Protein Glycosylation in the ER and Golgi Complex (http://www.ncbi.nlm.nih.gov/books/NBK21744/)

What glossary definitions help with understanding the glycosyltransferase family 8 domain containing gene family?

domain ; gene ; glycosylation ; protein ; syndrome

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

References

These sources were used to develop the Genetics Home Reference summary for the glycosyltransferase family 8 domain containing gene family.

  • Sethi MK, Buettner FF, Ashikov A, Krylov VB, Takeuchi H, Nifantiev NE, Haltiwanger RS, Gerardy-Schahn R, Bakker H. Molecular cloning of a xylosyltransferase that transfers the second xylose to O-glucosylated epidermal growth factor repeats of notch. J Biol Chem. 2012 Jan 20;287(4):2739-48. doi: 10.1074/jbc.M111.302406. Epub 2011 Nov 23. (http://www.ncbi.nlm.nih.gov/pubmed/22117070?dopt=Abstract)
  • Moslemi AR, Lindberg C, Nilsson J, Tajsharghi H, Andersson B, Oldfors A. Glycogenin-1 deficiency and inactivated priming of glycogen synthesis. N Engl J Med. 2010 Apr 1;362(13):1203-10. doi: 10.1056/NEJMoa0900661. (http://www.ncbi.nlm.nih.gov/pubmed/20357282?dopt=Abstract)
  • Inamori K, Yoshida-Moriguchi T, Hara Y, Anderson ME, Yu L, Campbell KP. Dystroglycan function requires xylosyl- and glucuronyltransferase activities of LARGE. Science. 2012 Jan 6;335(6064):93-6. doi: 10.1126/science.1214115. (http://www.ncbi.nlm.nih.gov/pubmed/22223806?dopt=Abstract)
  • Ashikov A, Buettner FF, Tiemann B, Gerardy-Schahn R, Bakker H. LARGE2 generates the same xylose- and glucuronic acid-containing glycan structures as LARGE. Glycobiology. 2013 Mar;23(3):303-9. doi: 10.1093/glycob/cws153. Epub 2012 Nov 7. (http://www.ncbi.nlm.nih.gov/pubmed/23135544?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: August 2013
Published: July 27, 2015