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OXCT1

OXCT1

Reviewed December 2011

What is the official name of the OXCT1 gene?

The official name of this gene is “3-oxoacid CoA transferase 1.”

OXCT1 is the gene's official symbol. The OXCT1 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 OXCT1 gene?

The OXCT1 gene provides instruction for making an enzyme called succinyl-CoA:3-ketoacid CoA transferase, often abbreviated as SCOT. The SCOT enzyme is made in the energy-producing centers of cells (mitochondria). The enzyme plays a role in the breakdown of ketones, which are molecules produced by the liver during the breakdown of fats. Ketones are an important source of energy during prolonged periods without food (fasting) or when energy demands are increased, such as during illness or when exercising. In the processing of ketones, the SCOT enzyme converts the molecule acetoacetate to acetoacetyl-CoA.

How are changes in the OXCT1 gene related to health conditions?

succinyl-CoA:3-ketoacid CoA transferase deficiency - caused by mutations in the OXCT1 gene

At least 20 mutations in the OXCT1 gene have been found to cause SCOT deficiency, a condition characterized by episodes of extreme tiredness, appetite loss, and seizures, known as ketoacidotic attacks. Most OXCT1 gene mutations lead to changes in single protein building blocks (amino acids) in the SCOT enzyme and result in an enzyme with little or no function. A reduction in the amount of functional enzyme leads to an inability to break down ketones, often resulting in decreased energy production and an elevated level of ketones in the blood. If these signs become severe, a ketoacidotic attack can occur.

Where is the OXCT1 gene located?

Cytogenetic Location: 5p13.1

Molecular Location on chromosome 5: base pairs 41,730,064 to 41,870,688

The OXCT1 gene is located on the short (p) arm of chromosome 5 at position 13.1.

The OXCT1 gene is located on the short (p) arm of chromosome 5 at position 13.1.

More precisely, the OXCT1 gene is located from base pair 41,730,064 to base pair 41,870,688 on chromosome 5.

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

Where can I find additional information about OXCT1?

You and your healthcare professional may find the following resources about OXCT1 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 OXCT1 gene or gene products?

  • 3-oxoacid-CoA transferase 1
  • OXCT
  • SCOT
  • SCOT1_HUMAN
  • somatic-type succinyl CoA:3-oxoacid CoA-transferase
  • somatic-type succinyl-CoA:3-oxoacid-CoA-transferase
  • succinyl-CoA:3-ketoacid-CoA transferase
  • succinyl-CoA:3-ketoacid-coenzyme A transferase 1, mitochondrial
  • succinyl CoA:3-oxoacid CoA transferase

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 OXCT1?

acids ; breakdown ; CoA ; coenzyme A ; deficiency ; enzyme ; fasting ; gene ; ketolysis ; mitochondria ; molecule ; protein ; transferase

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: December 2011
Published: November 24, 2014