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Genetics Home Reference: your guide to understanding genetic conditions
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GLB1

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.

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?

GM1 gangliosidosis - caused by mutations in the GLB1 gene

More than 80 mutations in the GLB1 gene have been found to cause GM1 gangliosidosis. Most mutations change single DNA building blocks (nucleotides) in the GLB1 gene. These mutations often affect the production of both β-galactosidase and elastin-binding protein.

GLB1 gene mutations that cause GM1 gangliosidosis reduce or eliminate the activity of β-galactosidase. Without enough functional β-galactosidase, GM1 ganglioside and keratan sulfate cannot be broken down. As a result, these substances accumulate to toxic levels in many tissues and organs. In the brain, progressive damage caused by the buildup of GM1 ganglioside leads to the destruction of nerve cells, which causes many of the signs and symptoms of GM1 gangliosidosis.

Although the role elastin-binding protein plays in the development of GM1 gangliosidosis is unclear, the alteration of this protein may contribute to the weakened heart muscle (cardiomyopathy) found in some people with GM1 gangliosidosis.

mucopolysaccharidosis type IV - caused by mutations in the GLB1 gene

More than 10 mutations in the GLB1 gene have been found to cause mucopolysaccharidosis type IV (MPS IV). Most of these mutations change single nucleotides in the gene. All of the mutations that cause MPS IV disrupt the breakdown of keratan sulfate by β-galactosidase. The degradation of GM1 ganglioside is not affected by these mutations.

The lack of β-galactosidase activity leads to the accumulation of keratan sulfate within lysosomes. Because keratan sulfate is predominantly found in cartilage and the cornea, the buildup of this substance causes skeletal abnormalities and cloudy corneas. Researchers believe that a buildup of GAGs may also cause the features of MPS IV by interfering with the functions of other proteins inside lysosomes and disrupting the movement of molecules inside the cell.

Where is the GLB1 gene located?

Cytogenetic Location: 3p21.33

Molecular Location on chromosome 3: base pairs 32,996,607 to 33,097,201

The GLB1 gene is located on the short (p) arm of chromosome 3 at position 21.33.

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 32,996,607 to base pair 33,097,201 on chromosome 3.

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 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?

  • acid beta-galactosidase
  • beta-galactosidase
  • beta-galactosidase isoform a preproprotein
  • beta-galactosidase isoform b
  • beta-galactosidase isoform c preproprotein
  • BGAL_HUMAN
  • EBP
  • elastin receptor 1, 67kDa
  • ELNR1
  • lactase

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 GLB1?

breakdown ; cardiomyopathy ; cartilage ; cell ; connective tissue ; cornea ; degradation ; DNA ; elastic ; enzyme ; gene ; protein ; receptor ; sulfate ; tissue ; toxic

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).

References

  • Brunetti-Pierri N, Scaglia F. GM1 gangliosidosis: review of clinical, molecular, and therapeutic aspects. Mol Genet Metab. 2008 Aug;94(4):391-6. doi: 10.1016/j.ymgme.2008.04.012. Epub 2008 Jun 3. Review. (http://www.ncbi.nlm.nih.gov/pubmed/18524657?dopt=Abstract)
  • Duca L, Blanchevoye C, Cantarelli B, Ghoneim C, Dedieu S, Delacoux F, Hornebeck W, Hinek A, Martiny L, Debelle L. The elastin receptor complex transduces signals through the catalytic activity of its Neu-1 subunit. J Biol Chem. 2007 Apr 27;282(17):12484-91. Epub 2007 Feb 27. (http://www.ncbi.nlm.nih.gov/pubmed/17327233?dopt=Abstract)
  • OMIM: GALACTOSIDASE, BETA-1 (http://omim.org/entry/611458)
  • Hofer D, Paul K, Fantur K, Beck M, Bürger F, Caillaud C, Fumic K, Ledvinova J, Lugowska A, Michelakakis H, Radeva B, Ramaswami U, Plecko B, Paschke E. GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase. Hum Mutat. 2009 Aug;30(8):1214-21. doi: 10.1002/humu.21031. (http://www.ncbi.nlm.nih.gov/pubmed/19472408?dopt=Abstract)
  • Hofer D, Paul K, Fantur K, Beck M, Roubergue A, Vellodi A, Poorthuis BJ, Michelakakis H, Plecko B, Paschke E. Phenotype determining alleles in GM1 gangliosidosis patients bearing novel GLB1 mutations. Clin Genet. 2010 Sep;78(3):236-46. doi: 10.1111/j.1399-0004.2010.01379.x. Epub 2010 Feb 11. (http://www.ncbi.nlm.nih.gov/pubmed/20175788?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/2720)
  • Santamaria R, Chabás A, Callahan JW, Grinberg D, Vilageliu L. Expression and characterization of 14 GLB1 mutant alleles found in GM1-gangliosidosis and Morquio B patients. J Lipid Res. 2007 Oct;48(10):2275-82. Epub 2007 Jul 30. (http://www.ncbi.nlm.nih.gov/pubmed/17664528?dopt=Abstract)
  • Santamaria R, Chabás A, Coll MJ, Miranda CS, Vilageliu L, Grinberg D. Twenty-one novel mutations in the GLB1 gene identified in a large group of GM1-gangliosidosis and Morquio B patients: possible common origin for the prevalent p.R59H mutation among gypsies. Hum Mutat. 2006 Oct;27(10):1060. (http://www.ncbi.nlm.nih.gov/pubmed/16941474?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 healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: July 2010
Published: December 16, 2014