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GLA

GLA

Reviewed March 2007

What is the official name of the GLA gene?

The official name of this gene is “galactosidase, alpha.”

GLA is the gene's official symbol. The GLA 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 GLA gene?

The GLA gene provides instructions for making an enzyme called alpha-galactosidase A. This enzyme is active in lysosomes, which are structures that act as recycling centers within cells. Lysosomes use digestive enzymes to process worn-out cell components and recycle usable parts.

Alpha-galactosidase A breaks down a molecule called globotriaosylceramide, which consists of three sugars attached to a fatty substance. This molecule is degraded as part of the normal recycling of old red blood cells (erythrocytes) and other types of cells.

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

Fabry disease - caused by mutations in the GLA gene

More than 370 mutations in the GLA gene have been identified in people with Fabry disease. Most of these genetic changes are unique to single families. The most common type of mutation changes a single protein building block (amino acid) in alpha-galactosidase A. Other mutations delete part of the GLA gene, insert extra genetic material into the gene, or insert a premature stop signal in the gene's instructions for making alpha-galactosidase A. Alterations in the GLA gene produce an abnormal version of the enzyme that is unable to break down globotriaosylceramide effectively. As a result, this substance builds up in the body's cells, particularly cells lining blood vessels in the skin and cells in the kidneys, heart, and nervous system. The progressive accumulation of globotriaosylceramide damages these cells, leading to the varied signs and symptoms of Fabry disease.

Mutations that eliminate the activity of the alpha-galactosidase A enzyme lead to the severe, classic form of Fabry disease, which typically begins in childhood. Mutations that reduce but do not completely eliminate the enzyme's activity usually cause milder, late-onset forms of the disorder.

Where is the GLA gene located?

Cytogenetic Location: Xq22

Molecular Location on the X chromosome: base pairs 101,397,790 to 101,408,012

The GLA gene is located on the long (q) arm of the X chromosome at position 22.

The GLA gene is located on the long (q) arm of the X chromosome at position 22.

More precisely, the GLA gene is located from base pair 101,397,790 to base pair 101,408,012 on the X chromosome.

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

Where can I find additional information about GLA?

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

  • AGAL_HUMAN
  • Agalsidase alfa
  • Alpha-D-galactosidase A
  • alpha-D-galactoside galactohydrolase
  • Alpha-galactosidase
  • alpha-Galactosidase A
  • ceramidetrihexosidase
  • GALA
  • Melibiase

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 GLA?

amino acid ; cell ; digestive ; enzyme ; gene ; molecule ; mutation ; nervous system ; protein

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

See also Understanding Medical Terminology.

References (7 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: March 2007
Published: November 17, 2014