Methylenetetrahydrofolate Dehydrogenase 1 Like Protein (MTHFD1L)

One-carbon substituted forms of tetrahydrofolate (THF) are involved in the de novo synthesis of purines and thymidylate and support cellular methylation reactions through the regeneration of methionine from homocysteine. MTHFD1L is an enzyme involved in THF synthesis in mitochondria.

The deduced 978-amino acid protein has an N-terminal mitochondrial leader sequence. Expression was low in liver and skeletal muscle, and barely detectable in heart. The ratio of the 2 bands was similar in all tissues. Three-prime RACE of human placenta total RNA revealed that the 1.1-kb transcript utilizes an alternate exon, 8a, that contains a stop codon after 45 nucleotides. The deduced 275-amino acid protein is predicted to lack 10-formyl-THF synthetase activity.