2o2k
From Proteopedia
(Difference between revisions)
| Line 3: | Line 3: | ||
== Structural highlights == | == Structural highlights == | ||
<table><tr><td colspan='2'>[[2o2k]] is a 2 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2O2K OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2O2K FirstGlance]. <br> | <table><tr><td colspan='2'>[[2o2k]] is a 2 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2O2K OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2O2K FirstGlance]. <br> | ||
| - | </td></tr><tr><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">MTR ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 Homo sapiens])</td></tr> | + | </td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">MTR ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 Homo sapiens])</td></tr> |
| - | <tr><td class="sblockLbl"><b>Activity:</b></td><td class="sblockDat"><span class='plainlinks'>[http://en.wikipedia.org/wiki/Methionine_synthase Methionine synthase], with EC number [http://www.brenda-enzymes.info/php/result_flat.php4?ecno=2.1.1.13 2.1.1.13] </span></td></tr> | + | <tr id='activity'><td class="sblockLbl"><b>Activity:</b></td><td class="sblockDat"><span class='plainlinks'>[http://en.wikipedia.org/wiki/Methionine_synthase Methionine synthase], with EC number [http://www.brenda-enzymes.info/php/result_flat.php4?ecno=2.1.1.13 2.1.1.13] </span></td></tr> |
| - | <tr><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2o2k FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2o2k OCA], [http://www.rcsb.org/pdb/explore.do?structureId=2o2k RCSB], [http://www.ebi.ac.uk/pdbsum/2o2k PDBsum]</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=2o2k FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2o2k OCA], [http://www.rcsb.org/pdb/explore.do?structureId=2o2k RCSB], [http://www.ebi.ac.uk/pdbsum/2o2k PDBsum]</span></td></tr> |
| - | <table> | + | </table> |
== Disease == | == Disease == | ||
[[http://www.uniprot.org/uniprot/METH_HUMAN METH_HUMAN]] Defects in MTR are the cause of methylcobalamin deficiency type G (cblG) [MIM:[http://omim.org/entry/250940 250940]]; also known as homocystinuria-megaloblastic anemia complementation type G. It is an autosomal recessive inherited disease that causes mental retardation, macrocytic anemia, and homocystinuria. Mild deficiency in MS activity could be associated with mild hyperhomocysteinemia, a risk factor for cardiovascular disease and possibly neural tube defects. MS mutations could also be involved in tumorigenesis. Defects in MTR 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 MTR may affect the risk of spina bifida via the maternal rather than the embryonic genotype.<ref>PMID:12375236</ref> <ref>PMID:15979034</ref> | [[http://www.uniprot.org/uniprot/METH_HUMAN METH_HUMAN]] Defects in MTR are the cause of methylcobalamin deficiency type G (cblG) [MIM:[http://omim.org/entry/250940 250940]]; also known as homocystinuria-megaloblastic anemia complementation type G. It is an autosomal recessive inherited disease that causes mental retardation, macrocytic anemia, and homocystinuria. Mild deficiency in MS activity could be associated with mild hyperhomocysteinemia, a risk factor for cardiovascular disease and possibly neural tube defects. MS mutations could also be involved in tumorigenesis. Defects in MTR 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 MTR may affect the risk of spina bifida via the maternal rather than the embryonic genotype.<ref>PMID:12375236</ref> <ref>PMID:15979034</ref> | ||
| Line 35: | Line 35: | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Methionine synthase]] | [[Category: Methionine synthase]] | ||
| - | [[Category: Jowitt, T A | + | [[Category: Jowitt, T A]] |
| - | [[Category: Leys, D | + | [[Category: Leys, D]] |
| - | [[Category: Marshall, K R | + | [[Category: Marshall, K R]] |
| - | [[Category: Scrutton, N S | + | [[Category: Scrutton, N S]] |
| - | [[Category: Toogood, H S | + | [[Category: Toogood, H S]] |
| - | [[Category: Wolthers, K R | + | [[Category: Wolthers, K R]] |
[[Category: Beta-meander region]] | [[Category: Beta-meander region]] | ||
[[Category: C-shaped]] | [[Category: C-shaped]] | ||
[[Category: Transferase]] | [[Category: Transferase]] | ||
[[Category: Twisted anti-parallel beta sheet]] | [[Category: Twisted anti-parallel beta sheet]] | ||
Revision as of 18:01, 19 January 2015
Crystal Structure of the Activation Domain of Human Methionine Synthase Isoform/Mutant D963E/K1071N
| |||||||||||
