SERAC1

SERAC1 is a gene that encodes the protein serine active site containing 1. This protein is involved in the regulation of lipid metabolism, specifically in the mitochondria and endoplasmic reticulum. Mutations in this gene have been associated with a rare genetic disorder known as MEGDEL syndrome.

Function

The SERAC1 protein is involved in the remodeling of phospholipids, which are a class of lipids that are a major component of all cell membranes. It is particularly involved in the remodeling of cardiolipin, a phospholipid found in the inner mitochondrial membrane. This remodeling process is essential for the proper functioning of mitochondria.

Clinical significance

Mutations in the SERAC1 gene can lead to MEGDEL syndrome, a rare autosomal recessive disorder. This syndrome is characterized by 3-methylglutaconic aciduria, deafness, encephalopathy, Leigh-like syndrome, and tonic-clonic seizures. The syndrome is named after the five main features of the disease.

File:SERAC1 gene location.png

Location of the SERAC1 gene on chromosome 6.

Genetics

The SERAC1 gene is located on the long (q) arm of chromosome 6 at position 25.3, from base pair 149,721,214 to base pair 149,745,819.

See also

• MEGDEL syndrome
• Phospholipid
• Mitochondria

References

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