View source for 9gag


==Human PEX5 TPR domain in complex with PEX14 KIPSWQIPV peptide==
<StructureSection load='9gag' size='340' side='right'caption='[[9gag]]' scene=''>
== Structural highlights ==
<table><tr><td colspan='2'>[[9gag]] is a 2 chain structure with sequence from [https://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=9GAG OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=9GAG FirstGlance]. <br>
</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">Solution NMR, 10 models</td></tr>
<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=9gag FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=9gag OCA], [https://pdbe.org/9gag PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=9gag RCSB], [https://www.ebi.ac.uk/pdbsum/9gag PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=9gag ProSAT]</span></td></tr>
</table>
== Disease ==
[https://www.uniprot.org/uniprot/PEX5_HUMAN PEX5_HUMAN] Defects in PEX5 are the cause of peroxisome biogenesis disorder 2A (PBD2A) [MIM:[https://omim.org/entry/214110 214110]. A fatal peroxisome biogenesis disorder belonging to the Zellweger disease spectrum and characterized clinically 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.<ref>PMID:7719337</ref>   Defects in PEX5 are the cause of peroxisome biogenesis disorder 2B (PBD2B) [MIM:[https://omim.org/entry/202370 202370]. A peroxisome biogenesis disorder that includes neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), two milder manifestations of the Zellweger disease spectrum. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy and vision impairment. Children with the NALD presentation may reach their teens, while patients with the IRD presentation may reach adulthood. The clinical conditions are often slowly progressive in particular with respect to loss of hearing and vision. The biochemical abnormalities include accumulation of phytanic acid, very long chain fatty acids (VLCFA), di- and trihydroxycholestanoic acid and pipecolic acid.
== Function ==
[https://www.uniprot.org/uniprot/PEX5_HUMAN PEX5_HUMAN] Binds to the C-terminal PTS1-type tripeptide peroxisomal targeting signal (SKL-type) and plays an essential role in peroxisomal protein import.<ref>PMID:7719337</ref> <ref>PMID:7790377</ref> <ref>PMID:7706321</ref> 
== References ==
<references/>
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</StructureSection>
[[Category: Homo sapiens]]
[[Category: Large Structures]]
[[Category: Emmanouilidis L]]
[[Category: Gaussmann S]]
[[Category: Sattler M]]