Aliases for MTHFD1L Gene
External Ids for MTHFD1L Gene
Previous HGNC Symbols for MTHFD1L Gene
Previous GeneCards Identifiers for MTHFD1L Gene
The protein encoded by this gene is involved in the synthesis of tetrahydrofolate (THF) in the mitochondrion. THF is important in the de novo synthesis of purines and thymidylate and in the regeneration of methionine from homocysteine. Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jun 2011]
GeneCards Summary for MTHFD1L Gene
MTHFD1L (Methylenetetrahydrofolate Dehydrogenase (NADP+ Dependent) 1-Like) is a Protein Coding gene. Diseases associated with MTHFD1L include Choline Deficiency Disease and Neural Tube Defects. Among its related pathways are Metabolism and Metabolism of water-soluble vitamins and cofactors. GO annotations related to this gene include protein homodimerization activity and methenyltetrahydrofolate cyclohydrolase activity. An important paralog of this gene is MTHFD1.
UniProtKB/Swiss-Prot for MTHFD1L Gene
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.