Human gamma-aminobutyraldehyde dehydrogenase (ALDH9): cDNA sequence, genomic organization, polymorphism, chromosomal localization, and tissue expression.

The cDNA and the gene (ALDH9) for a human aldehyde dehydrogenase isozyme, which has a high activity for oxidation of gamma-aminobutyraldehyde and other amino aldehydes, were cloned and characterized. The cDNA has an open reading frame of 1479 bp encoding 493 amino acid residues. The gene is about 45 kb and consists of 10 coding exons interrupted by nine introns. The gene was assigned to chromosome 1q22-q23, using fluorescence in situ hybridization. Northern blot hybridization indicated that the size of the mRNA is about 2.4 kb and that the gene is expressed at high levels in adult liver, skeletal muscle, and kidney and low levels in heart, pancreas, lung, and brain. The gene is polymorphic, i.e., C or T at nt 327 and C or G at nt 344.