2nz2: Difference between revisions

<StructureSection load='2nz2' size='340' side='right' caption='[[2nz2]], [[Resolution|resolution]] 2.40&Aring;' scene=''>

<table><tr><td colspan='2'>[[2nz2]] 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=2NZ2 OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2NZ2 FirstGlance]. <br>

</td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat"><scene name='pdbligand=ASP:ASPARTIC+ACID'>ASP</scene>, <scene name='pdbligand=CIR:CITRULLINE'>CIR</scene>, <scene name='pdbligand=NA:SODIUM+ION'>NA</scene></td></tr>

<tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">ASS1, ASS ([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/Argininosuccinate_synthase Argininosuccinate synthase], with EC number [http://www.brenda-enzymes.info/php/result_flat.php4?ecno=6.3.4.5 6.3.4.5] </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=2nz2 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2nz2 OCA], [http://pdbe.org/2nz2 PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=2nz2 RCSB], [http://www.ebi.ac.uk/pdbsum/2nz2 PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=2nz2 ProSAT]</span></td></tr>

[[http://www.uniprot.org/uniprot/ASSY_HUMAN ASSY_HUMAN]] Defects in ASS1 are the cause of citrullinemia type 1 (CTLN1) [MIM:[http://omim.org/entry/215700 215700]]. Citrullinemia belongs to the urea cycle disorders. It is an autosomal recessive disease characterized primarily by elevated serum and urine citrulline levels. Ammonia intoxication is another manifestation. CTLN1 usually manifests in the first few days of life. Affected infants appear normal at birth, but as ammonia builds up in the body they present symptoms such as lethargy, poor feeding, vomiting, seizures and loss of consciousness. Less commonly, a milder CTLN1 form can develop later in childhood or adulthood.<ref>PMID:11941481</ref> <ref>PMID:2358466</ref> <ref>PMID:1943692</ref> <ref>PMID:7977368</ref> <ref>PMID:8792870</ref> <ref>PMID:11708871</ref> <ref>PMID:12815590</ref> <ref>PMID:14680976</ref> <ref>PMID:16475226</ref>   

     <scriptWhenChecked>select protein; define ~consurf_to_do selected; consurf_initial_scene = true; script "/wiki/ConSurf/nz/2nz2_consurf.spt"</scriptWhenChecked>