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Gene Review

MTHFD1L  -  methylenetetrahydrofolate dehydrogenase...

Homo sapiens

Synonyms: DKFZP586G1517, FLJ21145, FTHFSDC1, Formyltetrahydrofolate synthetase, MTC1THFS, ...
 
 
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Disease relevance of MTHFD1L

 

High impact information on MTHFD1L

  • The gene product expressed in 293 cells was localized in mitochondria and processed at the predicted signal cleavage site, supporting the idea that DKFZp586G1517 is a novel mitochondrial C(1)-tetrahydrofolate synthetase (mtC(1)-THFS) [1].
 

Analytical, diagnostic and therapeutic context of MTHFD1L

  • The full-length cDNA of the DKFZp586G1517 cloned by polymerase chain reaction (PCR) encodes a protein with 978 amino acids, which is homologous to the human cytosolic C(1)-tetrahydrofolate synthetase and contains a mitochondrial target signal at N-terminus [1].

References

  1. A novel mitochondrial C1-tetrahydrofolate synthetase is upregulated in human colon adenocarcinoma. Sugiura, T., Nagano, Y., Inoue, T., Hirotani, K. Biochem. Biophys. Res. Commun. (2004) [Pubmed]
 
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