1dig: Difference between revisions
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{{STRUCTURE_1dig| PDB=1dig | SCENE= }} | {{STRUCTURE_1dig| PDB=1dig | SCENE= }} | ||
===HUMAN METHYLENETETRAHYDROFOLATE DEHYDROGENASE / CYCLOHYDROLASE COMPLEXED WITH NADP AND INHIBITOR LY374571=== | ===HUMAN METHYLENETETRAHYDROFOLATE DEHYDROGENASE / CYCLOHYDROLASE COMPLEXED WITH NADP AND INHIBITOR LY374571=== | ||
{{ABSTRACT_PUBMED_10828945}} | |||
==Disease== | |||
[[http://www.uniprot.org/uniprot/C1TC_HUMAN C1TC_HUMAN]] Defects in MTHFD1 may be a cause of susceptibility to folate-sensitive neural tube defects (FS-NTD) [MIM:[http://omim.org/entry/601634 601634]]. The most common NTDs are open spina bifida (myelomeningocele) and anencephaly. Genetic defects in MTHFD1 may affect the risk of spina bifida via the maternal rather than the embryonic genotype.<ref>PMID:9611072</ref><ref>PMID:12384833</ref><ref>PMID:16552426</ref> Genetic variation in MTHFD1 could be associated with susceptibility to colorectal cancer (CRC) [MIM:[http://omim.org/entry/114500 114500]]. | |||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
<ref group="xtra">PMID:010828945</ref><references group="xtra"/> | <ref group="xtra">PMID:010828945</ref><references group="xtra"/><references/> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Bewly, J R.]] | [[Category: Bewly, J R.]] | ||
