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SERAC1

SERAC1

Reviewed July 2014

What is the official name of the SERAC1 gene?

The official name of this gene is “serine active site containing 1.”

SERAC1 is the gene's official symbol. The SERAC1 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 SERAC1 gene?

The SERAC1 gene provides instructions for making a protein whose function is not completely understood. Studies suggest that the SERAC1 protein is involved in altering (remodeling) certain fats called phospholipids, particularly a phospholipid called phosphatidylglycerol.

Another phospholipid called cardiolipin is made from phosphatidylglycerol. Cardiolipin is a component of the membrane that surrounds cellular structures called mitochondria, which convert the energy from food into a form that cells can use, and is important for the proper functioning of these structures.

Researchers believe that the SERAC1 protein is also involved in the movement of a waxy, fat-like substance called cholesterol within cells. Cholesterol is a structural component of cell membranes and plays a role in the production of certain hormones and digestive acids. It has important functions both before and after birth.

How are changes in the SERAC1 gene related to health conditions?

MEGDEL syndrome - caused by mutations in the SERAC1 gene

At least 16 mutations in the SERAC1 gene have been found to cause MEGDEL syndrome. This condition is characterized by hearing loss, neurological problems, certain changes in the brain described as Leigh-like disease, and abnormally high amounts of an acid called 3-methylglutaconic acid in the urine. The SERAC1 gene mutations that cause this condition reduce the amount of SERAC1 protein that is produced or lead to production of a protein with little or no function. As a result, phosphatidylglycerol remodeling is impaired, which likely alters the composition of cardiolipin. Researchers speculate that the abnormal cardiolipin affects mitochondrial function, reducing cellular energy production and leading to the neurological and hearing problems characteristic of MEGDEL syndrome. It is unclear how SERAC1 gene mutations lead to abnormal release of 3-methylglutaconic acid in the urine.

Where is the SERAC1 gene located?

Cytogenetic Location: 6q25.3

Molecular Location on chromosome 6: base pairs 158,109,503 to 158,168,279

The SERAC1 gene is located on the long (q) arm of chromosome 6 at position 25.3.

The SERAC1 gene is located on the long (q) arm of chromosome 6 at position 25.3.

More precisely, the SERAC1 gene is located from base pair 158,109,503 to base pair 158,168,279 on chromosome 6.

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

Where can I find additional information about SERAC1?

You and your healthcare professional may find the following resources about SERAC1 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 SERAC1 gene or gene products?

  • FLJ14917
  • protein SERAC1
  • serine active site-containing protein 1

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 SERAC1?

acids ; active site ; cell ; cholesterol ; digestive ; gene ; mitochondria ; neurological ; phospholipid ; phospholipids ; protein ; serine ; syndrome

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: July 2014
Published: September 15, 2014