DISEASES

Disease-gene associations mined from literature

Literature associating MTHFD1L and neural tube defect

MTHFD1L [ENSP00000478253]

Monofunctional C1-tetrahydrofolate synthase, mitochondrial; May provide the missing metabolic reaction required to link the mitochondria and the cytoplasm in the mammalian model of one-carbon folate metabolism in embryonic an transformed cells complementing thus the enzymatic activities of MTHFD2; In the N-terminal section; belongs to the tetrahydrofolate dehydrogenase/cyclohydrolase family.

Synonyms:  MTHFD1L,  MTHFD1Lp,  hMTHFD1L,  A0A087WVM4,  B7ZM99 ...

Linkouts:  STRING  Pharos  UniProt