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Reviewed July 2010
What is the official name of the GLB1 gene?
The official name of this gene is “galactosidase beta 1.”
GLB1 is the gene's official symbol. The GLB1 gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.
What is the normal function of the GLB1 gene?
The GLB1 gene provides instructions for producing an enzyme called beta-galactosidase (β-galactosidase). This enzyme is located in lysosomes, which are compartments within cells that break down and recycle different types of molecules. Within lysosomes, β-galactosidase helps break down certain molecules, including substances called GM1 ganglioside and keratan sulfate. GM1 ganglioside is important for normal functioning of nerve cells in the brain, and keratan sulfate is particularly abundant in cartilage and the clear covering of the eye (cornea). Keratan sulfate belongs to a group of large sugar molecules called glycosaminoglycans (GAGs) or mucopolysaccharides.
The GLB1 gene also provides instructions for making the elastin-binding protein. On the cell surface, elastin-binding protein interacts with proteins called cathepsin A and neuraminidase 1 to form the elastin receptor complex. This receptor complex plays a role in the formation of elastic fibers, which are a component of the connective tissue that forms the body's supportive framework.
How are changes in the GLB1 gene related to health conditions?
Where is the GLB1 gene located?
Cytogenetic Location: 3p21.33
Molecular Location on chromosome 3: base pairs 32,996,608 to 33,097,202
The GLB1 gene is located on the short (p) arm of chromosome 3 at position 21.33.
More precisely, the GLB1 gene is located from base pair 32,996,608 to base pair 33,097,202 on chromosome 3.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about GLB1?
You and your healthcare professional may find the following resources about GLB1 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
What other names do people use for the GLB1 gene or gene products?
See How are genetic conditions and genes named? in the Handbook.
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding GLB1?
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (8 links)
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? in the Handbook.