ALDH7A1

ALDH7A1 is a gene that provides instructions for making an enzyme called antiquitin. This enzyme is found in cells throughout the body, with the highest levels in the liver, kidney, and brain. Antiquitin is involved in the breakdown of a certain amino acid called lysine.

Function

The ALDH7A1 gene belongs to the aldehyde dehydrogenase family. These enzymes play a crucial role in processing aldehydes generated by lipid peroxidation, and in the metabolism of corticosteroids, biogenic amines, neurotransmitters, and lipid peroxidation.

Clinical significance

Mutations in the ALDH7A1 gene cause pyridoxine-dependent epilepsy, a condition that involves seizures beginning in infancy or, in some cases, before birth. These seizures are resistant to common anti-seizure medications but can be controlled with large doses of vitamin B6 (pyridoxine).

Genetics

The ALDH7A1 gene is located on the short (p) arm of chromosome 5 at position 31.2. More precisely, the ALDH7A1 gene is located from base pair 12,277,507 to base pair 12,344,674 on chromosome 5.

See also

• Aldehyde dehydrogenase
• Pyridoxine-dependent epilepsy
• Chromosome 5

External links

• ALDH7A1 at the Genetics Home Reference

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