MTHFSD: Proteins and Enzymes

The MTHFSD gene encodes a methenyltetrahydrofolate synthase domain-containing protein that exists in four isoforms: isoform 1 is 383 amino acids long at 42 kDA, isoform 2 is 382 amino acids long at 42 kDA, isoform 3 is 383 amino acids long at 42 kDA, and isoform 4 is 382 amino acids long at 41 kDA. This gene interacts with the TP53, TP63, TP73, SIN3A, and ACTR1A genes. MTHFSD has been linked to vacterl association and esophageal atresia.