Skip Navigation
Genetics Home Reference: your guide to understanding genetic conditions About   Site Map   Contact Us
 
Home A service of the U.S. National Library of Medicine®
 
 
Printer-friendly version
FUCA1

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.

Read more about gene names and symbols on the About page.

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 23,845,076 to 23,868,368

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 23,845,076 to base pair 23,868,368 on chromosome 1.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about FUCA1?

You and your healthcare professional may find the following resources about FUCA1 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 FUCA1 gene or gene products?

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

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 FUCA1?

breakdown ; cell ; enzyme ; fucose ; gene ; glycolipids ; glycoproteins ; molecule ; neurological ; oligosaccharides ; pancreas ; tissue

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

References (5 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.

 
Reviewed: December 2008
Published: October 20, 2014