SERAC1 gene
The SERAC1 gene provides instructions for making a protein involved in remodeling phospholipids and managing cholesterol transport within cells.
Normal Function
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.
Health Conditions Related to Genetic Changes
MEGDEL syndrome
At least 16 mutations in the SERAC1 gene have been found to cause MEGDEL syndrome. This condition is characterized by:
- Hearing loss
- Neurological problems
- Changes in the brain described as Leigh-like disease
- 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 produced or lead to the 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.
Leigh syndrome
MedlinePlus Genetics provides information about Leigh syndrome.
Other Names for This Gene
- FLJ14917
- protein SERAC1
- serine active site-containing protein 1