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.
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Protein Aliases: 10-formyltetrahydrofolate dehydrogenase; 10-FTHFDH; 10fTHF; 10FTHFDH; aldehyde dehydrogenase 1 family, member L1; Aldehyde dehydrogenase family 1 member L1; Cytosolic 10-formyltetrahydrofolate dehydrogenase; DKFZp781N0997; MER57B-ALDH1L1
Gene Aliases: 10-fTHF; 10-FTHFDH; ALDH1L1; FDH; FTHFD
UniProt ID: (Human) O75891
Entrez Gene ID: (Human) 10840