8j99: Difference between revisions
From Proteopedia
Jump to navigationJump to search
No edit summary |
No edit summary |
||
| Line 1: | Line 1: | ||
==Human 3-methylcrotonyl-CoA carboxylase in BCS-mcoa state== | |||
<StructureSection load='8j99' size='340' side='right'caption='[[8j99]], [[Resolution|resolution]] 2.87Å' scene=''> | |||
== Structural highlights == | |||
<table><tr><td colspan='2'>[[8j99]] is a 12 chain structure with sequence from [https://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=8J99 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=8J99 FirstGlance]. <br> | |||
</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">Electron Microscopy, [[Resolution|Resolution]] 2.87Å</td></tr> | |||
[[Category: | <tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=TW3:~{S}-[2-[3-[[(2~{R})-4-[[[(2~{S},3~{S},4~{S},5~{S})-5-(6-aminopurin-9-yl)-4-oxidanyl-3-phosphonooxy-oxolan-2-yl]methoxy-oxidanyl-phosphoryl]oxy-oxidanyl-phosphoryl]oxy-3,3-dimethyl-2-oxidanyl-butanoyl]amino]propanoylamino]ethyl]+3-methylbut-2-enethioate'>TW3</scene></td></tr> | ||
[[Category: Liu | <tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=8j99 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=8j99 OCA], [https://pdbe.org/8j99 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=8j99 RCSB], [https://www.ebi.ac.uk/pdbsum/8j99 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=8j99 ProSAT]</span></td></tr> | ||
[[Category: Su | </table> | ||
== Disease == | |||
[https://www.uniprot.org/uniprot/MCCA_HUMAN MCCA_HUMAN] Defects in MCCC1 are the cause of methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:[https://omim.org/entry/210200 210200]. An autosomal recessive disorder of leucine catabolism. The phenotype is variable, ranging from neonatal onset with severe neurological involvement to asymptomatic adults. There is a characteristic organic aciduria with massive excretion of 3-hydroxyisovaleric acid and 3-methylcrotonylglycine, usually in combination with a severe secondary carnitine deficiency.<ref>PMID:11170888</ref> <ref>PMID:11406611</ref> <ref>PMID:11181649</ref> <ref>PMID:22150417</ref> | |||
== Function == | |||
[https://www.uniprot.org/uniprot/MCCA_HUMAN MCCA_HUMAN] | |||
== References == | |||
<references/> | |||
__TOC__ | |||
</StructureSection> | |||
[[Category: Homo sapiens]] | |||
[[Category: Large Structures]] | |||
[[Category: Liu DS]] | |||
[[Category: Su JY]] | |||
Latest revision as of 08:28, 9 May 2024
Human 3-methylcrotonyl-CoA carboxylase in BCS-mcoa state
| ||||||||||||
