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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.
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.
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.
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.
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.
You and your healthcare professional may find the following resources about B3GALTL helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
adenine ; cell ; congenital ; disability ; DNA ; enzyme ; exon ; fucose ; gene ; glucose ; glycosylation ; guanine ; molecule ; mutation ; nucleotide ; 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).
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.