|http://ghr.nlm.nih.gov/ A service of the U.S. National Library of Medicine®|
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.
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 these members of the dolichyl D-mannosyl phosphate dependent mannosyltransferases gene family: ALG12, PIGV, POMT1, and POMT2.
Genetics Home Reference includes these conditions related to genes in 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.
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.
These sources were used to develop the Genetics Home Reference summary for the dolichyl D-mannosyl phosphate dependent mannosyltransferases gene family.
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.