2wl8: Difference between revisions

==X-RAY CRYSTAL STRUCTURE OF PEX19P==

<StructureSection load='2wl8' size='340' side='right' caption='[[2wl8]], [[Resolution|resolution]] 2.05&Aring;' scene=''>

<table><tr><td colspan='2'>[[2wl8]] is a 4 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=2WL8 OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2WL8 FirstGlance]. <br>

</td></tr><tr id='related'><td class="sblockLbl"><b>[[Related_structure|Related:]]</b></td><td class="sblockDat">[[2w85|2w85]]</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=2wl8 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2wl8 OCA], [http://pdbe.org/2wl8 PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=2wl8 RCSB], [http://www.ebi.ac.uk/pdbsum/2wl8 PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=2wl8 ProSAT]</span></td></tr>

[[http://www.uniprot.org/uniprot/PEX19_HUMAN PEX19_HUMAN]] Defects in PEX19 are the cause of peroxisome biogenesis disorder complementation group 14 (PBD-CG14) [MIM:[http://omim.org/entry/614886 614886]]; also known as PBD-CGJ. PBD refers to a group of peroxisomal disorders arising from a failure of protein import into the peroxisomal membrane or matrix. The PBD group is comprised of four disorders: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum. The PBD group is genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies.<ref>PMID:20683989</ref>  Defects in PEX19 are the cause of peroxisome biogenesis disorder 12A (PBD12A) [MIM:[http://omim.org/entry/614886 614886]]. A fatal peroxisome biogenesis disorder belonging to the Zellweger disease spectrum and clinically characterized by severe neurologic dysfunction with profound psychomotor retardation, severe hypotonia and neonatal seizures, craniofacial abnormalities, liver dysfunction, and biochemically by the absence of peroxisomes. Additional features include cardiovascular and skeletal defects, renal cysts, ocular abnormalities, and hearing impairment. Most severely affected individuals with the classic form of the disease (classic Zellweger syndrome) die within the first year of life.  

[[http://www.uniprot.org/uniprot/PEX19_HUMAN PEX19_HUMAN]] Necessary for early peroxisomal biogenesis. Acts both as a cytosolic chaperone and as an import receptor for peroxisomal membrane proteins (PMPs). Binds and stabilizes newly synthesized PMPs in the cytoplasm by interacting with their hydrophobic membrane-spanning domains, and targets them to the peroxisome membrane by binding to the integral membrane protein PEX3. Excludes CDKN2A from the nucleus and prevents its interaction with MDM2, which results in active degradation of TP53.<ref>PMID:10051604</ref> <ref>PMID:10704444</ref> <ref>PMID:11259404</ref> <ref>PMID:11883941</ref> <ref>PMID:15007061</ref> <ref>PMID:14709540</ref>

     <scriptWhenChecked>select protein; define ~consurf_to_do selected; consurf_initial_scene = true; script "/wiki/ConSurf/wl/2wl8_consurf.spt"</scriptWhenChecked>

[[Category: Human]]

[[Category: Erdmann, R]]

[[Category: Holton, S J]]

[[Category: Konarev, P]]

[[Category: Roessle, M]]

[[Category: Schliebs, W]]

[[Category: Schueller, N]]

[[Category: Song, Y H]]

[[Category: Stanley, W A]]

[[Category: Wilmanns, M]]

[[Category: Zellweger syndrome]]