2ejm: Difference between revisions
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{{STRUCTURE_2ejm| PDB=2ejm | SCENE= }} | {{STRUCTURE_2ejm| PDB=2ejm | SCENE= }} | ||
===Solution structure of RUH-072, an apo-biotnyl domain form human acetyl coenzyme A carboxylase=== | ===Solution structure of RUH-072, an apo-biotnyl domain form human acetyl coenzyme A carboxylase=== | ||
==Disease== | |||
[[http://www.uniprot.org/uniprot/MCCA_HUMAN MCCA_HUMAN]] Defects in MCCC1 are the cause of methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:[http://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> | |||
==About this Structure== | ==About this Structure== | ||
[[2ejm]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2EJM OCA]. | [[2ejm]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2EJM OCA]. | ||
==Reference== | |||
<references group="xtra"/><references/> | |||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Methylcrotonoyl-CoA carboxylase]] | [[Category: Methylcrotonoyl-CoA carboxylase]] | ||
