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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 allows proteins to perform a wider variety of functions. The B3Glc-T enzyme is responsible for one step in a glycosylation pathway that adds a sugar molecule called glucose to several different proteins. The B3GALTL gene is normally turned on in most cells of the body, which suggests that the B3Glc-T enzyme plays an important role in cellular function.
At least four mutations that cause Peters plus syndrome have been identified in the B3GALTL gene. The most common mutation disrupts how genetic information is spliced together to produce the B3Glc-T enzyme. This mutation, called a splice-site 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 results in the production of an abnormally short, nonfunctional B3Glc-T enzyme. It is unclear how the loss of functional B3Glc-T enzyme leads to the signs and symptoms of Peters plus syndrome.
Cytogenetic Location: 13q12.3
Molecular Location on chromosome 13: base pairs 31,774,111 to 31,906,412
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 31,774,111 to base pair 31,906,412 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 ; congenital ; DNA ; enzyme ; exon ; gene ; glucose ; glycosylation ; guanine ; molecule ; mutation ; nucleotide ; splice-site mutation ; syndrome
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://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.