Aldehyde Dehydrogenase 1 Family, Member L1 (ALDH1L1)

ALDH1L1 catalyzes the conversion of 10-formyltetrahydrofolate, NADP, and water to tetrahydrofolate, NADPH, and carbon dioxide. The encoded protein belongs to the aldehyde dehydrogenase family and is responsible for formate oxidation in vivo. Deficiencies in this gene can result in an accumulation of formate and subsequent methanol poisoning.The proteins were found to share identical sequences in the first 25 residues and this sequence showed 96% identity with that of the rat and human proteins. In addition, they showed crossreactivity to polyclonal sera raised against purified rat 10-formyl-THF dehydrogenase. Southern blot analysis showed a RFLP consistent with a deletion mutation in the FTHFD gene in mice lacking the protein. Furthermore, liver cytosolic enzymatic activity was undetectable in homozygotes.