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SLC25A20

SLC25A20

Reviewed November 2010

What is the official name of the SLC25A20 gene?

The official name of this gene is “solute carrier family 25 (carnitine/acylcarnitine translocase), member 20.”

SLC25A20 is the gene's official symbol. The SLC25A20 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 SLC25A20 gene?

The SLC25A20 gene provides instructions for making a protein called carnitine-acylcarnitine translocase (CACT). This protein is essential for fatty acid oxidation, a multistep process that breaks down (metabolizes) fats and converts them into energy. Fatty acid oxidation takes place within mitochondria, which are the energy-producing centers in cells. A group of fats called long-chain fatty acids must be attached to a substance known as carnitine to enter mitochondria. Once these fatty acids are joined with carnitine, the CACT protein transports them into mitochondria. Carnitine is then removed from the long-chain fatty acid and transported back out of mitochondria by the CACT protein. Fatty acids are a major source of energy for the heart and muscles. During periods of fasting, fatty acids are also an important energy source for the liver and other tissues.

Does the SLC25A20 gene share characteristics with other genes?

The SLC25A20 gene belongs to a family of genes called SLC (solute carriers).

A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? in the Handbook.

How are changes in the SLC25A20 gene related to health conditions?

carnitine-acylcarnitine translocase deficiency - caused by mutations in the SLC25A20 gene

At least 27 mutations in the SLC25A20 gene have been found to cause carnitine-acylcarnitine translocase (CACT) deficiency. Although these mutations change the structure of the CACT protein in different ways, they all lead to a shortage (deficiency) of the protein. Without enough functional CACT protein, long-chain fatty acids cannot be transported into mitochondria. As a result, these fatty acids are not converted to energy. Reduced energy production can lead to some of the features of CACT deficiency, such as low blood sugar (hypoglycemia) and low levels of the products of fat breakdown (hypoketosis). Fatty acids and long-chain acylcarnitines (fatty acids still attached to carnitine) may also build up in cells and damage the liver, heart, and muscles. This abnormal buildup causes the other signs and symptoms of the disorder.

Where is the SLC25A20 gene located?

Cytogenetic Location: 3p21.31

Molecular Location on chromosome 3: base pairs 48,856,922 to 48,898,992

The SLC25A20 gene is located on the short (p) arm of chromosome 3 at position 21.31.

The SLC25A20 gene is located on the short (p) arm of chromosome 3 at position 21.31.

More precisely, the SLC25A20 gene is located from base pair 48,856,922 to base pair 48,898,992 on chromosome 3.

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

Where can I find additional information about SLC25A20?

You and your healthcare professional may find the following resources about SLC25A20 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 SLC25A20 gene or gene products?

  • CAC
  • CACT
  • carnitine-acylcarnitine carrier
  • carnitine/acylcarnitine translocase
  • MCAT_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 SLC25A20?

acids ; breakdown ; carnitine ; carrier ; deficiency ; fasting ; fatty acids ; gene ; hypoglycemia ; mitochondria ; oxidation ; protein ; solute

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: November 2010
Published: January 19, 2015