MTHFD2

Last updated
MTHFD2
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases MTHFD2 , NMDMC, methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase
External IDs OMIM: 604887; MGI: 1338850; HomoloGene: 21321; GeneCards: MTHFD2; OMA:MTHFD2 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001040409
NM_006636

NM_008638

RefSeq (protein)

NP_006627

NP_032664

Location (UCSC) Chr 2: 74.19 – 74.22 Mb Chr 6: 83.28 – 83.3 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase, mitochondrial is an enzyme that in humans is encoded by the MTHFD2 gene. [5] [6] [7]

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 multiple transcripts encoding different isoforms. This gene has a pseudogene on chromosome 7. [7]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000065911 Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000005667 Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Peri KG, Belanger C, Mackenzie RE (Dec 1989). "Nucleotide sequence of the human NAD-dependent methylene tetrahydrofolate dehydrogenase-cyclohydrolase". Nucleic Acids Res. 17 (21): 8853. doi:10.1093/nar/17.21.8853. PMC   335047 . PMID   2587219.
  6. Yang XM, MacKenzie RE (Nov 1993). "NAD-dependent methylenetetrahydrofolate dehydrogenase-methenyltetrahydrofolate cyclohydrolase is the mammalian homolog of the mitochondrial enzyme encoded by the yeast MIS1 gene". Biochemistry. 32 (41): 11118–23. doi:10.1021/bi00092a022. PMID   8218174.
  7. 1 2 "Entrez Gene: MTHFD2 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase".

Further reading