1k8m: Difference between revisions
Jump to navigation
Jump to search
m Protected "1k8m" [edit=sysop:move=sysop] |
No edit summary |
||
| Line 1: | Line 1: | ||
{{STRUCTURE_1k8m| PDB=1k8m | SCENE= }} | {{STRUCTURE_1k8m| PDB=1k8m | SCENE= }} | ||
===Solution Structure of the Lipoic Acid-Bearing Domain of the E2 component of Human, Mitochondrial Branched-Chain alpha-Ketoacid Dehydrogenase=== | |||
{{ABSTRACT_PUBMED_11839747}} | |||
=== | ==Disease== | ||
[[http://www.uniprot.org/uniprot/ODB2_HUMAN ODB2_HUMAN]] Defects in DBT are the cause of maple syrup urine disease type 2 (MSUD2) [MIM:[http://omim.org/entry/248600 248600]]. MSUD is an autosomal recessive disorder characterized by mental and physical retardation, feeding problems, and a maple syrup odor to the urine.<ref>PMID:1847055</ref><ref>PMID:9621512</ref> | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/ODB2_HUMAN ODB2_HUMAN]] The branched-chain alpha-keto dehydrogenase complex catalyzes the overall conversion of alpha-keto acids to acyl-CoA and CO(2). It contains multiple copies of three enzymatic components: branched-chain alpha-keto acid decarboxylase (E1), lipoamide acyltransferase (E2) and lipoamide dehydrogenase (E3). | |||
==About this Structure== | ==About this Structure== | ||
| Line 11: | Line 13: | ||
==Reference== | ==Reference== | ||
<ref group="xtra">PMID:011839747</ref><references group="xtra"/> | <ref group="xtra">PMID:011839747</ref><references group="xtra"/><references/> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Chang, C F.]] | [[Category: Chang, C F.]] | ||
Revision as of 01:58, 25 March 2013
Solution Structure of the Lipoic Acid-Bearing Domain of the E2 component of Human, Mitochondrial Branched-Chain alpha-Ketoacid DehydrogenaseSolution Structure of the Lipoic Acid-Bearing Domain of the E2 component of Human, Mitochondrial Branched-Chain alpha-Ketoacid Dehydrogenase
Template:ABSTRACT PUBMED 11839747
DiseaseDisease
[ODB2_HUMAN] Defects in DBT are the cause of maple syrup urine disease type 2 (MSUD2) [MIM:248600]. MSUD is an autosomal recessive disorder characterized by mental and physical retardation, feeding problems, and a maple syrup odor to the urine.[1][2]
FunctionFunction
[ODB2_HUMAN] The branched-chain alpha-keto dehydrogenase complex catalyzes the overall conversion of alpha-keto acids to acyl-CoA and CO(2). It contains multiple copies of three enzymatic components: branched-chain alpha-keto acid decarboxylase (E1), lipoamide acyltransferase (E2) and lipoamide dehydrogenase (E3).
About this StructureAbout this Structure
1k8m is a 1 chain structure with sequence from Homo sapiens. Full experimental information is available from OCA.
ReferenceReference
- ↑ Chang CF, Chou HT, Chuang JL, Chuang DT, Huang TH. Solution structure and dynamics of the lipoic acid-bearing domain of human mitochondrial branched-chain alpha-keto acid dehydrogenase complex. J Biol Chem. 2002 May 3;277(18):15865-73. Epub 2002 Feb 11. PMID:11839747 doi:http://dx.doi.org/10.1074/jbc.M110952200
- ↑ Fisher CW, Lau KS, Fisher CR, Wynn RM, Cox RP, Chuang DT. A 17-bp insertion and a Phe215----Cys missense mutation in the dihydrolipoyl transacylase (E2) mRNA from a thiamine-responsive maple syrup urine disease patient WG-34. Biochem Biophys Res Commun. 1991 Jan 31;174(2):804-9. PMID:1847055
- ↑ Tsuruta M, Mitsubuchi H, Mardy S, Miura Y, Hayashida Y, Kinugasa A, Ishitsu T, Matsuda I, Indo Y. Molecular basis of intermittent maple syrup urine disease: novel mutations in the E2 gene of the branched-chain alpha-keto acid dehydrogenase complex. J Hum Genet. 1998;43(2):91-100. PMID:9621512 doi:10.1007/s100380050047