Aliases for MTHFD2 Gene
External Ids for MTHFD2 Gene
Previous GeneCards Identifiers for MTHFD2 Gene
This gene encodes a nuclear-encoded mitochondrial bifunctional enzyme with methylenetetrahydrofolate dehydrogenase and methenyltetrahydrofolate cyclohydrolase activities. The enzyme functions as a homodimer and is unique in its absolute requirement for magnesium and inorganic phosphate. Formation of the enzyme-magnesium complex allows binding of NAD. Alternative splicing results in two different transcripts, one protein-coding and the other not protein-coding. This gene has a pseudogene on chromosome 7. [provided by RefSeq, Mar 2009]
GeneCards Summary for MTHFD2 Gene
MTHFD2 (Methylenetetrahydrofolate Dehydrogenase (NADP+ Dependent) 2, Methenyltetrahydrofolate Cyclohydrolase) is a Protein Coding gene. Diseases associated with MTHFD2 include Cutis Laxa, Autosomal Dominant 3 and Cutis Laxa, Autosomal Dominant 1. Among its related pathways are One carbon pool by folate and Nucleotide Metabolism. Gene Ontology (GO) annotations related to this gene include magnesium ion binding and formate-tetrahydrofolate ligase activity. An important paralog of this gene is MTHFD2L.
UniProtKB/Swiss-Prot Summary for MTHFD2 Gene
Although its dehydrogenase activity is NAD-specific, it can also utilize NADP at a reduced efficiency.