ALDH7A1


Also found in: Dictionary, Encyclopedia.

ALDH7A1

A gene on chromosome 5q31 that encodes an aldehyde dehydrogenase involved in lysine catabolism in the mitochondrial matrix.

Molecular pathology
ALDH7A1 mutation are associated with pyridoxine-dependent epilepsy.
Mentioned in ?
References in periodicals archive ?
PDE is caused by a mutation in ALDH7A1 gene encoding antiqutin.
P411L (c.1232C> T) heterozygous variation in the ALDH7A1 gene.
(11) This would suggest a possible slowly progressive neurodegenerative disease course of PDE caused by ALDH7A1 genetic defect.