2r3v: Difference between revisions
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== Structural highlights == | == Structural highlights == | ||
<table><tr><td colspan='2'>[[2r3v]] is a 4 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=2R3V OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2R3V FirstGlance]. <br> | <table><tr><td colspan='2'>[[2r3v]] is a 4 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=2R3V OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2R3V FirstGlance]. <br> | ||
</td></tr><tr><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">MVK ([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">MVK ([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/Mevalonate_kinase Mevalonate kinase], with EC number [http://www.brenda-enzymes.info/php/result_flat.php4?ecno=2.7.1.36 2.7.1.36] </span></td></tr> | <tr id='activity'><td class="sblockLbl"><b>Activity:</b></td><td class="sblockDat"><span class='plainlinks'>[http://en.wikipedia.org/wiki/Mevalonate_kinase Mevalonate kinase], with EC number [http://www.brenda-enzymes.info/php/result_flat.php4?ecno=2.7.1.36 2.7.1.36] </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=2r3v FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2r3v OCA], [http://www.rcsb.org/pdb/explore.do?structureId=2r3v RCSB], [http://www.ebi.ac.uk/pdbsum/2r3v 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=2r3v FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2r3v OCA], [http://www.rcsb.org/pdb/explore.do?structureId=2r3v RCSB], [http://www.ebi.ac.uk/pdbsum/2r3v PDBsum]</span></td></tr> | ||
<table> | </table> | ||
== Disease == | == Disease == | ||
[[http://www.uniprot.org/uniprot/KIME_HUMAN KIME_HUMAN]] Defects in MVK are the cause of mevalonic aciduria (MEVA) [MIM:[http://omim.org/entry/610377 610377]]. It is an accumulation of mevalonic acid which causes a variety of symptoms such as psychomotor retardation, dysmorphic features, cataracts, hepatosplenomegaly, lymphadenopathy, anemia, hypotonia, myopathy, and ataxia.<ref>PMID:1377680</ref> <ref>PMID:11313768</ref> <ref>PMID:10417275</ref> <ref>PMID:10401001</ref> <ref>PMID:11313769</ref> Defects in MVK are the cause of hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:[http://omim.org/entry/260920 260920]]. HIDS is an autosomal recessive disease characterized by recurrent episodes of unexplained high fever associated with skin rash, diarrhea, adenopathy (swollen, tender lymph nodes), athralgias and/or arthritis. Concentration of IgD, and often IgA, are above normal.<ref>PMID:11313768</ref> <ref>PMID:11313769</ref> <ref>PMID:10369261</ref> <ref>PMID:10369262</ref> <ref>PMID:15536479</ref> | [[http://www.uniprot.org/uniprot/KIME_HUMAN KIME_HUMAN]] Defects in MVK are the cause of mevalonic aciduria (MEVA) [MIM:[http://omim.org/entry/610377 610377]]. It is an accumulation of mevalonic acid which causes a variety of symptoms such as psychomotor retardation, dysmorphic features, cataracts, hepatosplenomegaly, lymphadenopathy, anemia, hypotonia, myopathy, and ataxia.<ref>PMID:1377680</ref> <ref>PMID:11313768</ref> <ref>PMID:10417275</ref> <ref>PMID:10401001</ref> <ref>PMID:11313769</ref> Defects in MVK are the cause of hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:[http://omim.org/entry/260920 260920]]. HIDS is an autosomal recessive disease characterized by recurrent episodes of unexplained high fever associated with skin rash, diarrhea, adenopathy (swollen, tender lymph nodes), athralgias and/or arthritis. Concentration of IgD, and often IgA, are above normal.<ref>PMID:11313768</ref> <ref>PMID:11313769</ref> <ref>PMID:10369261</ref> <ref>PMID:10369262</ref> <ref>PMID:15536479</ref> | ||
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[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Mevalonate kinase]] | [[Category: Mevalonate kinase]] | ||
[[Category: Fu, Z | [[Category: Fu, Z]] | ||
[[Category: Kim, J P | [[Category: Kim, J P]] | ||
[[Category: Miziorko, H M | [[Category: Miziorko, H M]] | ||
[[Category: Voynova, N E | [[Category: Voynova, N E]] | ||
[[Category: Atp-binding]] | [[Category: Atp-binding]] | ||
[[Category: Cataract]] | [[Category: Cataract]] | ||
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[[Category: Farnesyl thiodiphophate]] | [[Category: Farnesyl thiodiphophate]] | ||
[[Category: Lipid synthesis]] | [[Category: Lipid synthesis]] | ||
[[Category: Nucleotide-binding]] | [[Category: Nucleotide-binding]] | ||
[[Category: Peroxisome]] | [[Category: Peroxisome]] | ||
