1olx: Difference between revisions
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{{STRUCTURE_1olx| PDB=1olx | SCENE= }} | {{STRUCTURE_1olx| PDB=1olx | SCENE= }} | ||
===ROLES OF HIS291-ALPHA AND HIS146-BETA' IN THE REDUCTIVE ACYLATION REACTION CATALYZED BY HUMAN BRANCHED-CHAIN ALPHA-KETOACID DEHYDROGENASE=== | |||
{{ABSTRACT_PUBMED_12902323}} | |||
== | ==Disease== | ||
[[http://www.uniprot.org/uniprot/ODBA_HUMAN ODBA_HUMAN]] Defects in BCKDHA are a cause of maple syrup urine disease type IA (MSUD1A) [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:2060625</ref><ref>PMID:8037208</ref><ref>PMID:2703538</ref><ref>PMID:2241958</ref><ref>PMID:1867199</ref><ref>PMID:1885764</ref><ref>PMID:8161368</ref><ref>PMID:7883996</ref> [[http://www.uniprot.org/uniprot/ODBB_HUMAN ODBB_HUMAN]] Defects in BCKDHB are the cause of maple syrup urine disease type IB (MSUD1B) [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:8161368</ref><ref>PMID:11509994</ref><ref>PMID:22326532</ref> | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/ODBA_HUMAN ODBA_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). [[http://www.uniprot.org/uniprot/ODBB_HUMAN ODBB_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== | ||
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==Reference== | ==Reference== | ||
<ref group="xtra">PMID:012902323</ref><ref group="xtra">PMID:011069910</ref><ref group="xtra">PMID:010745006</ref><references group="xtra"/> | <ref group="xtra">PMID:012902323</ref><ref group="xtra">PMID:011069910</ref><ref group="xtra">PMID:010745006</ref><references group="xtra"/><references/> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Chuang, D T.]] | [[Category: Chuang, D T.]] | ||
