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
ACOX1

ACOX1

Reviewed April 2014

What is the official name of the ACOX1 gene?

The official name of this gene is “acyl-CoA oxidase 1, palmitoyl.”

ACOX1 is the gene's official symbol. The ACOX1 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 ACOX1 gene?

The ACOX1gene provides instructions for making an enzyme called peroxisomal straight-chain acyl-CoA oxidase. This enzyme is found in sac-like cell structures (organelles) called peroxisomes, which contain a variety of enzymes that break down many different substances. The peroxisomal straight-chain acyl-CoA oxidase enzyme plays a role in the breakdown of certain fat molecules called very long-chain fatty acids (VLCFAs). Specifically, it is involved in the first step of a process called the peroxisomal fatty acid beta-oxidation pathway. This process shortens the VLCFA molecules by two carbon atoms at a time until the VLCFAs are converted to a molecule called acetyl-CoA, which is transported out of the peroxisomes for reuse by the cell.

How are changes in the ACOX1 gene related to health conditions?

peroxisomal acyl-CoA oxidase deficiency - caused by mutations in the ACOX1 gene

More than 20 ACOX1 gene mutations have been identified in people with peroxisomal acyl-CoA oxidase deficiency. These mutations prevent the peroxisomal straight-chain acyl-CoA oxidase enzyme from breaking down VLCFAs efficiently. As a result, these fatty acids accumulate in the body. It is unclear exactly how VLCFA accumulation leads to the specific features of peroxisomal acyl-CoA oxidase deficiency. However, researchers suggest that the abnormal fatty acid accumulation triggers inflammation in the nervous system that leads to the breakdown of myelin, which is the covering that protects nerves and promotes the efficient transmission of nerve impulses. Destruction of myelin leads to a loss of myelin-containing tissue (white matter) in the brain and spinal cord; loss of white matter is described as leukodystrophy. Leukodystrophy is likely involved in the development of the neurological abnormalities that occur in peroxisomal acyl-CoA oxidase deficiency.

Where is the ACOX1 gene located?

Cytogenetic Location: 17q25.1

Molecular Location on chromosome 17: base pairs 75,941,506 to 75,979,433

The ACOX1 gene is located on the long (q) arm of chromosome 17 at position 25.1.

The ACOX1 gene is located on the long (q) arm of chromosome 17 at position 25.1.

More precisely, the ACOX1 gene is located from base pair 75,941,506 to base pair 75,979,433 on chromosome 17.

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

Where can I find additional information about ACOX1?

You and your healthcare professional may find the following resources about ACOX1 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 ACOX1 gene or gene products?

  • ACOX
  • acyl-CoA oxidase, straight-chain
  • acyl-Coenzyme A oxidase 1, palmitoyl
  • AOX
  • PALMCOX
  • palmitoyl-CoA oxidase
  • peroxisomal acyl-coenzyme A oxidase 1
  • peroxisomal fatty acyl-CoA oxidase
  • SCOX
  • straight-chain acyl-CoA oxidase

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 ACOX1?

acids ; breakdown ; cell ; CoA ; coenzyme A ; deficiency ; enzyme ; fatty acids ; gene ; inflammation ; leukodystrophy ; molecule ; nervous system ; neurological ; oxidase ; oxidation ; peroxisomes ; tissue ; white matter

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

See also Understanding Medical Terminology.

References (9 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: April 2014
Published: October 20, 2014