NCIt synonyms : Antiquitin 1 Gene; Aldehyde Dehydrogenase 7 Family, Member A1 Gene; PDE; ATQ1; Aldehyde Dehydrogenase 7 Family Member A1 wt Allele; AASA Dehydrogenase Gene; EPD; EPEO4; Antiquitin Gene; 26g Turgor Protein Homolog Gene;
NCIt definition : Human ALDH7A1 wild-type allele is located in the vicinity of 5q23.2 and is approximately
64 kb in length. This allele, which encodes alpha-aminoadipic semialdehyde dehydrogenase
protein, is involved in the NAD( )-dependent metabolism of lysine, betaine and toxic
aldehydes. Mutations in the gene are associated with early-onset, vitamin B6-dependent
epilepsy 4.;