LIAS (gene)

LIAS (Lipoic Acid Synthetase) is a gene that encodes a protein involved in the production of lipoic acid, a vital cofactor in several key metabolic processes. The LIAS gene is located on the long (q) arm of chromosome 4 at position 23.

Function

The LIAS gene provides instructions for making an enzyme called lipoic acid synthetase. This enzyme is found in mitochondria, the energy-producing centers within cells. Lipoic acid synthetase is involved in the final steps of producing lipoic acid, which is a critical cofactor for several key enzymes in the citric acid cycle, a series of chemical reactions that generates energy from carbohydrates, fats, and proteins.

Clinical Significance

Mutations in the LIAS gene have been associated with a form of mitochondrial disease known as non-ketotic hyperglycinemia (NKH). This is a rare, genetic, metabolic disorder characterized by abnormally high levels of the amino acid glycine in bodily fluids and tissues. Symptoms of NKH can include seizures, intellectual disability, and problems with movement.

See Also

• Gene
• Protein
• Lipoic acid
• Mitochondria
• Citric acid cycle
• Non-ketotic hyperglycinemia

References

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