2q4r: Difference between revisions

<StructureSection load='2q4r' size='340' side='right' caption='[[2q4r]], [[Resolution|resolution]] 2.09&Aring;' scene=''>

<table><tr><td colspan='2'>[[2q4r]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Human Human]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2Q4R OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2Q4R FirstGlance]. <br>

</td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat"><scene name='pdbligand=EDO:1,2-ETHANEDIOL'>EDO</scene>, <scene name='pdbligand=GLY:GLYCINE'>GLY</scene></td></tr>

<tr id='related'><td class="sblockLbl"><b>[[Related_structure|Related:]]</b></td><td class="sblockDat">[[2amy|2amy]]</td></tr>

<tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">PMM2, HS.459855 ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN])</td></tr>

<tr id='activity'><td class="sblockLbl"><b>Activity:</b></td><td class="sblockDat"><span class='plainlinks'>[http://en.wikipedia.org/wiki/Phosphomannomutase Phosphomannomutase], with EC number [http://www.brenda-enzymes.info/php/result_flat.php4?ecno=5.4.2.8 5.4.2.8] </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=2q4r FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2q4r OCA], [http://pdbe.org/2q4r PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=2q4r RCSB], [http://www.ebi.ac.uk/pdbsum/2q4r PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=2q4r ProSAT]</span></td></tr>

[[http://www.uniprot.org/uniprot/PMM2_HUMAN PMM2_HUMAN]] Defects in PMM2 are the cause of congenital disorder of glycosylation type 1A (CDG1A) [MIM:[http://omim.org/entry/212065 212065]]; also known as carbohydrate-deficient glycoprotein syndrome type Ia (CDGS1A) or Jaeken syndrome. Congenital disorders of glycosylation are metabolic deficiencies in glycoprotein biosynthesis that usually cause severe mental and psychomotor retardation. They are characterized by under-glycosylated serum glycoproteins. CDG1A is an autosomal recessive disorder characterized by a severe encephalopathy with axial hypotonia, abnormal eye movement, and pronounced psychomotor retardation, as well as peripheral neuropathy, cerebellar hypoplasia, and retinitis pigmentosa. Patients show a peculiar distribution of subcutaneous fat, nipple retraction, and hypogonadism.<ref>PMID:9140401</ref> <ref>PMID:9497260</ref> <ref>PMID:9781039</ref> <ref>PMID:10066032</ref> <ref>PMID:10602363</ref> <ref>PMID:10571956</ref> <ref>PMID:11058895</ref> <ref>PMID:11058896</ref> <ref>PMID:10801058</ref> <ref>PMID:11350185</ref> <ref>PMID:12357336</ref> <ref>PMID:15844218</ref> <ref>PMID:17307006</ref>   

[[http://www.uniprot.org/uniprot/PMM2_HUMAN PMM2_HUMAN]] Involved in the synthesis of the GDP-mannose and dolichol-phosphate-mannose required for a number of critical mannosyl transfer reactions (By similarity).