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'''Unreleased structure'''


The entry 6fcx is ON HOLD
==Structure of human 5,10-methylenetetrahydrofolate reductase (MTHFR)==
 
<StructureSection load='6fcx' size='340' side='right' caption='[[6fcx]], [[Resolution|resolution]] 2.50&Aring;' scene=''>
Authors: Bezerra, G.A., Kopec, J., Rembeza, E., Oberholzer, A.E., Sorrel, F., Ellis, K., Kupinska, K., Krojer, T., Burgess-Brown, N., von Delft, F., Arrowsmith, C., Edwards, E., Bountra, C., Froese, S.D., Baumgartner, M., Yue, W.W., Structural Genomics Consortium (SGC)
== Structural highlights ==
 
<table><tr><td colspan='2'>[[6fcx]] is a 2 chain structure. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=6FCX OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=6FCX FirstGlance]. <br>
Description: Structure of a human folate metabolizing enzyme
</td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat"><scene name='pdbligand=CIT:CITRIC+ACID'>CIT</scene>, <scene name='pdbligand=FAD:FLAVIN-ADENINE+DINUCLEOTIDE'>FAD</scene>, <scene name='pdbligand=SAH:S-ADENOSYL-L-HOMOCYSTEINE'>SAH</scene></td></tr>
[[Category: Unreleased Structures]]
<tr id='activity'><td class="sblockLbl"><b>Activity:</b></td><td class="sblockDat"><span class='plainlinks'>[http://en.wikipedia.org/wiki/Methylenetetrahydrofolate_reductase_(NAD(P)H) Methylenetetrahydrofolate reductase (NAD(P)H)], with EC number [http://www.brenda-enzymes.info/php/result_flat.php4?ecno=1.5.1.20 1.5.1.20] </span></td></tr>
<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=6fcx FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=6fcx OCA], [http://pdbe.org/6fcx PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=6fcx RCSB], [http://www.ebi.ac.uk/pdbsum/6fcx PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=6fcx ProSAT]</span></td></tr>
</table>
== Disease ==
[[http://www.uniprot.org/uniprot/MTHR_HUMAN MTHR_HUMAN]] Thoracolumbosacral spina bifida cystica;Cervicothoracic spina bifida cystica;Lumbosacral spina bifida cystica;Homocystinuria due to methylene tetrahydrofolate reductase deficiency;Cervicothoracic spina bifida aperta;Upper thoracic spina bifida aperta;Lumbosacral spina bifida aperta;Thoracolumbosacral spina bifida aperta;Methotrexate toxicity or dose selection;Cervical spina bifida cystica;Non rare thrombophilia;Upper thoracic spina bifida cystica;Total spina bifida aperta;Total spina bifida cystica;Isolated anencephaly/exencephaly;Cervical spina bifida aperta. The disease is caused by mutations affecting the gene represented in this entry.  Disease susceptibility is associated with variations affecting the gene represented in this entry. Disease susceptibility is associated with variations affecting the gene represented in this entry. Disease susceptibility is associated with variations affecting the gene represented in this entry.  
== Function ==
[[http://www.uniprot.org/uniprot/MTHR_HUMAN MTHR_HUMAN]] Catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine.<ref>PMID:25736335</ref> 
== References ==
<references/>
__TOC__
</StructureSection>
[[Category: Arrowsmith, C]]
[[Category: Baumgartner, M]]
[[Category: Bezerra, G A]]
[[Category: Borkowska, O]]
[[Category: Bountra, C]]
[[Category: Burgess-Brown, N]]
[[Category: Burgess-Brown, N]]
[[Category: Oberholzer, A.E]]
[[Category: Chalk, R]]
[[Category: Bezerra, G.A]]
[[Category: Delft, F Von]]
[[Category: Yue, W.W]]
[[Category: Edwards, A]]
[[Category: Baumgartner, M]]
[[Category: Ellis, K]]
[[Category: Froese, D S]]
[[Category: Kopec, J]]
[[Category: Kopec, J]]
[[Category: Von Delft, F]]
[[Category: Edwards, E]]
[[Category: Arrowsmith, C]]
[[Category: Sorrel, F]]
[[Category: Ellis, K]]
[[Category: Structural Genomics Consortium (Sgc)]]
[[Category: Krojer, T]]
[[Category: Krojer, T]]
[[Category: Froese, S.D]]
[[Category: Kupinska, K]]
[[Category: Oberholzer, A E]]
[[Category: Rembeza, E]]
[[Category: Rembeza, E]]
[[Category: Bountra, C]]
[[Category: Structural genomic]]
[[Category: Kupinska, K]]
[[Category: Sorrell, F J]]
[[Category: Yue, W W]]
[[Category: One carbon metabolism]]
[[Category: Oxidoreductase]]
[[Category: Rossmann fold]]
[[Category: S-adenosyl-methionine]]
[[Category: Sgc]]

Revision as of 08:35, 16 May 2018

Structure of human 5,10-methylenetetrahydrofolate reductase (MTHFR)Structure of human 5,10-methylenetetrahydrofolate reductase (MTHFR)

Structural highlights

6fcx is a 2 chain structure. Full crystallographic information is available from OCA. For a guided tour on the structure components use FirstGlance.
Ligands:, ,
Activity:Methylenetetrahydrofolate reductase (NAD(P)H), with EC number 1.5.1.20
Resources:FirstGlance, OCA, PDBe, RCSB, PDBsum, ProSAT

Disease

[MTHR_HUMAN] Thoracolumbosacral spina bifida cystica;Cervicothoracic spina bifida cystica;Lumbosacral spina bifida cystica;Homocystinuria due to methylene tetrahydrofolate reductase deficiency;Cervicothoracic spina bifida aperta;Upper thoracic spina bifida aperta;Lumbosacral spina bifida aperta;Thoracolumbosacral spina bifida aperta;Methotrexate toxicity or dose selection;Cervical spina bifida cystica;Non rare thrombophilia;Upper thoracic spina bifida cystica;Total spina bifida aperta;Total spina bifida cystica;Isolated anencephaly/exencephaly;Cervical spina bifida aperta. The disease is caused by mutations affecting the gene represented in this entry. Disease susceptibility is associated with variations affecting the gene represented in this entry. Disease susceptibility is associated with variations affecting the gene represented in this entry. Disease susceptibility is associated with variations affecting the gene represented in this entry.

Function

[MTHR_HUMAN] Catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine.[1]

References

  1. ↑ Burda P, Schafer A, Suormala T, Rummel T, Burer C, Heuberger D, Frapolli M, Giunta C, Sokolova J, Vlaskova H, Kozich V, Koch HG, Fowler B, Froese DS, Baumgartner MR. Insights into severe 5,10-methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic characterization of 76 patients. Hum Mutat. 2015 Jun;36(6):611-21. doi: 10.1002/humu.22779. Epub 2015 Apr 27. PMID:25736335 doi:http://dx.doi.org/10.1002/humu.22779

6fcx, resolution 2.50Å

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OCA
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