[6] Methylmalonate semialdehyde dehydrogenase deficiency is caused by mutations in this gene and the resulting protein.

Unlike other mitochondrial entry sequences, this does not contain as many arginine residues, and is in fact slightly longer.

In thymine catabolism, the enzymatic reaction produces (R)-aminoisobutyric acid (AIBA), which is then deaminated to (R)-methylmalonic semialdehyde.

[10] Mutations in the ALDH6A1 gene are associated with methylmalonate semialdehyde dehydrogenase deficiency, a rare autosomal recessive inborn error of metabolism with a highly variable phenotype.

[12] Another case study, a child from consanguineous patients, presented as significant hypotonia in infancy, poor feeding, and dysmorphic facial features, including narrowed, downslanting palpebral fissures, short convex nose with depressed nasal bridge, microphthalmia, cataracts, and adducted thumbs.