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Genetics Home Reference: your guide to understanding genetic conditions
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Dolichyl D-mannosyl phosphate dependent mannosyltransferases gene family

Reviewed August 2013

What are the dolichyl D-mannosyl phosphate dependent mannosyltransferases genes?

The genes in this family provide instructions for making enzymes called mannosyltransferases. These enzymes add the sugar mannose to various molecules and proteins (mannosylation). Specifically, dolichyl D-mannosyl phosphate dependent mannosyltransferases transfer mannose from a molecule called dolichyl D-mannosyl phosphate (dol-P-Man) to another molecule. Mannosylation occurs in the endoplasmic reticulum, which is a structure involved in protein processing and transport within cells. The addition of mannose to a molecule is often important for its stability or normal folding. Mannosylation can keep a molecule attached (bound) to a cell, can help that molecule keep the cells bound to one another, or keep cells anchored to the extracellular matrix, which is an intricate lattice of proteins and other molecules that forms in the spaces between cells.

Mutations in genes in this family result in impaired mannosylation and can cause a range of disorders.

Which genes are included in the dolichyl D-mannosyl phosphate dependent mannosyltransferases gene family?

The HUGO Gene Nomenclature Committee (HGNC) provides a list of genes in the dolichyl D-mannosyl phosphate dependent mannosyltransferases family (http://www.genenames.org/genefamilies/DOLPM).

Genetics Home Reference summarizes the normal function and health implications of these members of the dolichyl D-mannosyl phosphate dependent mannosyltransferases gene family: PIGV, POMT1, and POMT2.

What conditions are related to genes in the dolichyl D-mannosyl phosphate dependent mannosyltransferases gene family?

Genetics Home Reference includes these conditions related to genes in the dolichyl D-mannosyl phosphate dependent mannosyltransferases gene family:

  • limb-girdle muscular dystrophy
  • Mabry syndrome
  • Walker-Warburg syndrome

Where can I find additional information about the dolichyl D-mannosyl phosphate dependent mannosyltransferases gene family?

You may find the following resources about the dolichyl D-mannosyl phosphate dependent mannosyltransferases gene family helpful.

  • Essentials of Glycobiology (second edition, 2009): Structure of GPI Anchors (http://www.ncbi.nlm.nih.gov/books/NBK1966/)
  • Essentials of Glycobiology (second edition, 2009): O-Linked Mannose (http://www.ncbi.nlm.nih.gov/books/NBK1947/)

What glossary definitions help with understanding the dolichyl D-mannosyl phosphate dependent mannosyltransferases gene family?

cell ; class ; endoplasmic reticulum ; extracellular ; extracellular matrix ; glycan ; mannose ; molecule ; phosphate ; protein

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 dolichyl D-mannosyl phosphate dependent mannosyltransferases gene family.

  • Lommel M, Willer T, Cruces J, Strahl S. POMT1 is essential for protein O-mannosylation in mammals. Methods Enzymol. 2010;479:323-42. doi: 10.1016/S0076-6879(10)79018-2. (http://www.ncbi.nlm.nih.gov/pubmed/20816174?dopt=Abstract)
  • Manya H, Akasaka-Manya K, Nakajima A, Kawakita M, Endo T. Role of N-glycans in maintaining the activity of protein O-mannosyltransferases POMT1 and POMT2. J Biochem. 2010 Mar;147(3):337-44. doi: 10.1093/jb/mvp170. Epub 2009 Oct 29. (http://www.ncbi.nlm.nih.gov/pubmed/19880378?dopt=Abstract)
  • Kang JY, Hong Y, Ashida H, Shishioh N, Murakami Y, Morita YS, Maeda Y, Kinoshita T. PIG-V involved in transferring the second mannose in glycosylphosphatidylinositol. J Biol Chem. 2005 Mar 11;280(10):9489-97. Epub 2004 Dec 28. (http://www.ncbi.nlm.nih.gov/pubmed/15623507?dopt=Abstract)
  • Wells L. The o-mannosylation pathway: glycosyltransferases and proteins implicated in congenital muscular dystrophy. J Biol Chem. 2013 Mar 8;288(10):6930-5. doi: 10.1074/jbc.R112.438978. Epub 2013 Jan 17. Review. (http://www.ncbi.nlm.nih.gov/pubmed/23329833?dopt=Abstract)
  • Almeida A, Layton M, Karadimitris A. Inherited glycosylphosphatidyl inositol deficiency: a treatable CDG. Biochim Biophys Acta. 2009 Sep;1792(9):874-80. doi: 10.1016/j.bbadis.2008.12.010. Epub 2009 Jan 9. Review. (http://www.ncbi.nlm.nih.gov/pubmed/19168132?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: October 27, 2014