Reviewed September 2013
What is the official name of the B3GALTL gene?
The official name of this gene is “beta 1,3-galactosyltransferase-like.”
B3GALTL is the gene's official symbol. The B3GALTL gene is also known by other names, listed below.
What is the normal function of the B3GALTL gene?
The B3GALTL gene provides instructions for making an enzyme called beta-1,3-glucosyltransferase (B3Glc-T), which is involved in the complex process of adding sugar molecules to proteins (glycosylation). Glycosylation modifies proteins so they can perform a wider variety of functions. The B3Glc-T enzyme is involved in a two-step glycosylation pathway that results in the formation of a sugar structure, made up of the sugars fucose and glucose, on a specific location of several different proteins. The B3Glc-T enzyme is responsible for the second step, which adds a glucose molecule to the fucose molecule already attached to the protein. The B3GALTL gene is normally turned on (active) in most cells of the body, which suggests that the B3Glc-T enzyme plays an important role across many cell types.
Does the B3GALTL gene share characteristics with other genes?
The B3GALTL gene belongs to a family of genes called B3GT (beta 3-glycosyltransferases).
A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.
How are changes in the B3GALTL gene related to health conditions?
- Peters plus syndrome - caused by mutations in the B3GALTL gene
At least 10 mutations that cause Peters plus syndrome have been identified in the B3GALTL gene. Peters plus syndrome is characterized by eye abnormalities, short stature, intellectual disability, and distinctive facial features. The most common B3GALTL gene mutation replaces the DNA building block (nucleotide) guanine with the nucleotide adenine near an area of the gene called exon 8 (written as 660+1G>A). This mutation disrupts how genetic information is pieced together to produce the B3Glc-T enzyme. The resulting enzyme is abnormally short and nonfunctional. It is unclear how the loss of functional B3Glc-T enzyme leads to the signs and symptoms of Peters plus syndrome, but impaired glycosylation likely disrupts the function of many proteins, which may contribute to the variety of features.
Where is the B3GALTL gene located?
Cytogenetic Location: 13q12.3
Molecular Location on chromosome 13: base pairs 31,199,974 to 31,332,275
The B3GALTL gene is located on the long (q) arm of chromosome 13 at position 12.3.
More precisely, the B3GALTL gene is located from base pair 31,199,974 to base pair 31,332,275 on chromosome 13.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
Where can I find additional information about B3GALTL?
You and your healthcare professional may find the following resources about B3GALTL helpful.
Educational resources - Information pages
- Essentials of Glycobiology (second edition, 2009): Glycosyltransferases and Glycan-processing Enzymes (http://www.ncbi.nlm.nih.gov/books/NBK1921/)
- Molecular Biology of the Cell (fourth edition, 2002): What is the Purpose of Glycosylation? (http://www.ncbi.nlm.nih.gov/books/NBK26941/)
- Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/books/NBK1464)
Genetic Testing Registry - Repository of genetic test information
- GTR: Genetic tests for B3GALTL (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=145173%5Bgeneid%5D)
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=%28%28B3GALTL%5BTIAB%5D%29%20OR%20%28peters%20plus%5BTIAB%5D%29%20OR%20%28beta1,3-galactosyltransferases%5BTIAB%5D%29%29%20OR%20%28beta1,3-glucosyltransferase%5BTIAB%5D%29%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%201080%20days%22%5Bdp%5D)
- OMIM - Genetic disorder catalog (http://omim.org/entry/610308)
Research Resources - Tools for researchers
- HGNC Gene Family: Beta 3-glycosyltransferases (http://www.genenames.org/cgi-bin/genefamilies/set/426)
- HGNC Gene Symbol Report (http://www.genenames.org/cgi-bin/gene_symbol_report?q=data/hgnc_data.php&hgnc_id=20207)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/145173)
What other names do people use for the B3GALTL gene or gene products?
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
What glossary definitions help with understanding B3GALTL?
short stature ;
You may find definitions for these and many other terms in the Genetics Home Reference
- Gene Review: Peters Plus Syndrome (http://www.ncbi.nlm.nih.gov/books/NBK1464)
- Hess D, Keusch JJ, Oberstein SA, Hennekam RC, Hofsteenge J. Peters Plus syndrome is a new congenital disorder of glycosylation and involves defective Omicron-glycosylation of thrombospondin type 1 repeats. J Biol Chem. 2008 Mar 21;283(12):7354-60. doi: 10.1074/jbc.M710251200. Epub 2008 Jan 16. (http://www.ncbi.nlm.nih.gov/pubmed/18199743?dopt=Abstract)
- Kozma K, Keusch JJ, Hegemann B, Luther KB, Klein D, Hess D, Haltiwanger RS, Hofsteenge J. Identification and characterization of abeta1,3-glucosyltransferase that synthesizes the Glc-beta1,3-Fuc disaccharide on thrombospondin type 1 repeats. J Biol Chem. 2006 Dec 1;281(48):36742-51. Epub 2006 Oct 10. (http://www.ncbi.nlm.nih.gov/pubmed/17032646?dopt=Abstract)
- Lesnik Oberstein SA, Kriek M, White SJ, Kalf ME, Szuhai K, den Dunnen JT, Breuning MH, Hennekam RC. Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase. Am J Hum Genet. 2006 Sep;79(3):562-6. Epub 2006 Jul 19. Erratum in: Am J Hum Genet. 2006 Nov;79(5):985. (http://www.ncbi.nlm.nih.gov/pubmed/16909395?dopt=Abstract)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/145173)
- Reis LM, Tyler RC, Abdul-Rahman O, Trapane P, Wallerstein R, Broome D, Hoffman J, Khan A, Paradiso C, Ron N, Bergner A, Semina EV. Mutation analysis of B3GALTL in Peters Plus syndrome. Am J Med Genet A. 2008 Oct 15;146A(20):2603-10. doi: 10.1002/ajmg.a.32498. (http://www.ncbi.nlm.nih.gov/pubmed/18798333?dopt=Abstract)
- Sato T, Sato M, Kiyohara K, Sogabe M, Shikanai T, Kikuchi N, Togayachi A, Ishida H, Ito H, Kameyama A, Gotoh M, Narimatsu H. Molecular cloning and characterization of a novel human beta1,3-glucosyltransferase, which is localized at the endoplasmic reticulum and glucosylates O-linked fucosylglycan on thrombospondin type 1 repeat domain. Glycobiology. 2006 Dec;16(12):1194-206. Epub 2006 Aug 9. (http://www.ncbi.nlm.nih.gov/pubmed/16899492?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
See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.