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3rmu
From Proteopedia
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{{STRUCTURE_3rmu| PDB=3rmu | SCENE= }} | {{STRUCTURE_3rmu| PDB=3rmu | SCENE= }} | ||
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===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]. | ||
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| + | ==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
Contents |
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
Categories: Homo sapiens | Methylmalonyl-CoA epimerase | Arrowsmith, C H. | Bountra, C. | Chaikuad, A. | Delft, F von. | Edwards, A M. | Froese, D S. | Krysztofinska, E. | Muniz, J R.C. | Oppermann, U. | SGC, Structural Genomics Consortium. | Vollmar, M. | Weigelt, J. | Yue, W W. | Isomerase | Mitochondria | Sgc | Structural genomics consortium | Vitamin b12
