Skip Navigation
Genetics Home Reference: your guide to understanding genetic conditions
http://ghr.nlm.nih.gov/     A service of the U.S. National Library of Medicine®

FUCA1

Reviewed December 2008

What is the official name of the FUCA1 gene?

The official name of this gene is “fucosidase, alpha-L- 1, tissue.”

FUCA1 is the gene's official symbol. The FUCA1 gene is also known by other names, listed below.

What is the normal function of the FUCA1 gene?

The FUCA1 gene provides instructions for making an enzyme called alpha-L-fucosidase. This enzyme is found in lysosomes, which are compartments in the cell that digest and recycle materials. Within lysosomes, this enzyme plays a role in the breakdown of complexes of sugar molecules (oligosaccharides) attached to certain proteins (glycoproteins) and fats (glycolipids). Alpha-L-fucosidase is responsible for cutting (cleaving) off a sugar molecule called fucose toward the end of the breakdown process.

How are changes in the FUCA1 gene related to health conditions?

fucosidosis - caused by mutations in the FUCA1 gene

At least 26 mutations in the FUCA1 gene have been found to cause fucosidosis. Most of these mutations result in an abnormally short, nonfunctional alpha-L-fucosidase enzyme. Without this enzyme, glycolipids and glycoproteins cannot be completely broken down. These partially broken down compounds accumulate in the lysosomes and cause cells throughout the body to malfunction. Brain cells are particularly sensitive to the buildup of glycolipids and glycoproteins, which can result in cell death. Loss of brain cells is thought to cause the neurological symptoms of fucosidosis. Accumulation of glycolipids and glycoproteins also occurs in other organs such as the liver, spleen, skin, heart, pancreas, and kidneys, contributing to the additional symptoms of fucosidosis.

Where is the FUCA1 gene located?

Cytogenetic Location: 1p34

Molecular Location on chromosome 1: base pairs 24,171,566 to 24,194,858

The FUCA1 gene is located on the short (p) arm of chromosome 1 at position 34.

The FUCA1 gene is located on the short (p) arm of chromosome 1 at position 34.

More precisely, the FUCA1 gene is located from base pair 24,171,566 to base pair 24,194,858 on chromosome 1.

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 FUCA1?

You and your healthcare professional may find the following resources about FUCA1 helpful.

  • Educational resources - Information pages
    Basic Neurochemistry (sixth edition, 1999): Glycoprotein disorders result from defects in lysosomal hydrolases (http://www.ncbi.nlm.nih.gov/books/NBK28215/)

  • Genetic Testing Registry - Repository of genetic test information

    • GTR: Genetic tests for FUCA1 (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2517%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=(FUCA1%5BTIAB%5D)%20AND%20((Genes%5BMH%5D)%20OR%20(Genetic%20Phenomena%5BMH%5D))%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%203600%20days%22%5Bdp%5D)
  • OMIM - Genetic disorder catalog (http://omim.org/entry/612280)

  • Research Resources - Tools for researchers

    • Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_FUCA1.html)
    • Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/2517)
    • GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=2517)
    • HUGO Gene Nomenclature Committee (http://www.genenames.org/data/hgnc_data.php?hgnc_id=4006)

What other names do people use for the FUCA1 gene or gene products?

  • alpha-L-fucosidase
  • alpha-L-fucosidase 1
  • FUCO_HUMAN

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 FUCA1?

cell ; enzyme ; gene ; molecule ; neurological ; oligosaccharides ; pancreas ; tissue

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

References

  • Cragg H, Williamson M, Young E, O'Brien J, Alhadeff J, Fang-Kircher S, Paschke E, Winchester B. Fucosidosis: genetic and biochemical analysis of eight cases. J Med Genet. 1997 Feb;34(2):105-10. (http://www.ncbi.nlm.nih.gov/pubmed/9039984?dopt=Abstract)
  • Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/2517)
  • OMIM: FUCOSIDASE, ALPHA-L, 1 (http://omim.org/entry/612280)
  • Willems PJ, Gatti R, Darby JK, Romeo G, Durand P, Dumon JE, O'Brien JS. Fucosidosis revisited: a review of 77 patients. Am J Med Genet. 1991 Jan;38(1):111-31. Review. (http://www.ncbi.nlm.nih.gov/pubmed/2012122?dopt=Abstract)
  • Willems PJ, Seo HC, Coucke P, Tonlorenzi R, O'Brien JS. Spectrum of mutations in fucosidosis. Eur J Hum Genet. 1999 Jan;7(1):60-7. Review. (http://www.ncbi.nlm.nih.gov/pubmed/10094192?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: December 2008
Published: May 20, 2013