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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.
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.
Genetics Home Reference includes these conditions related to genes in the B3GT gene family:
You may find the following resources about the B3GT gene family helpful.
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).
These sources were used to develop the Genetics Home Reference summary for the B3GT 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.