3rmu: Difference between revisions
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{{STRUCTURE_3rmu| PDB=3rmu | SCENE= }} | {{STRUCTURE_3rmu| PDB=3rmu | SCENE= }} | ||
===Crystal structure of human Methylmalonyl-CoA epimerase, MCEE=== | ===Crystal structure of human Methylmalonyl-CoA epimerase, MCEE=== | ||
==Disease== | |||
[[http://www.uniprot.org/uniprot/MCEE_HUMAN MCEE_HUMAN]] Vitamin B12-unresponsive methylmalonic acidemia. Methylmalonyl-CoA epimerase deficiency (MCEED) [MIM:[http://omim.org/entry/251120 251120]]: Autosomal recessive inborn error of amino acid metabolism, involving valine, threonine, isoleucine and methionine. This organic aciduria may present in the neonatal period with life-threatening metabolic acidosis, hyperammonemia, feeding difficulties, pancytopenia and coma. Note=The disease is caused by mutations affecting the gene represented in this entry.<ref>PMID:16752391</ref> | |||
==About this Structure== | ==About this Structure== | ||
[[3rmu]] is a 4 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=3RMU OCA]. | [[3rmu]] is a 4 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=3RMU OCA]. | ||
==Reference== | |||
<references group="xtra"/><references/> | |||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Methylmalonyl-CoA epimerase]] | [[Category: Methylmalonyl-CoA epimerase]] | ||
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[[Category: Weigelt, J.]] | [[Category: Weigelt, J.]] | ||
[[Category: Yue, W W.]] | [[Category: Yue, W W.]] | ||
[[Category: Isomerase]] | |||
[[Category: Mitochondria]] | |||
[[Category: Sgc]] | |||
[[Category: Structural genomics consortium]] | |||
[[Category: Vitamin b12]] | |||
Revision as of 07:58, 16 May 2013
Crystal structure of human Methylmalonyl-CoA epimerase, MCEE
Disease
[MCEE_HUMAN] Vitamin B12-unresponsive methylmalonic acidemia. Methylmalonyl-CoA epimerase deficiency (MCEED) [MIM:251120]: Autosomal recessive inborn error of amino acid metabolism, involving valine, threonine, isoleucine and methionine. This organic aciduria may present in the neonatal period with life-threatening metabolic acidosis, hyperammonemia, feeding difficulties, pancytopenia and coma. Note=The disease is caused by mutations affecting the gene represented in this entry.[1]
About this Structure
3rmu is a 4 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.
Reference
- ↑ Bikker H, Bakker HD, Abeling NG, Poll-The BT, Kleijer WJ, Rosenblatt DS, Waterham HR, Wanders RJ, Duran M. A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria. Hum Mutat. 2006 Jul;27(7):640-3. PMID:16752391 doi:10.1002/humu.20373
