2r0m: Difference between revisions
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{{STRUCTURE_2r0m| PDB=2r0m | SCENE= }} | {{STRUCTURE_2r0m| PDB=2r0m | SCENE= }} | ||
===The effect of a Glu370Asp Mutation in Glutaryl-CoA Dehydrogenase on Proton Transfer to the Dienolate Intermediate=== | |||
{{ABSTRACT_PUBMED_18020372}} | |||
=== | ==Disease== | ||
[[http://www.uniprot.org/uniprot/GCDH_HUMAN GCDH_HUMAN]] Defects in GCDH are the cause of glutaric aciduria type 1 (GA1) [MIM:[http://omim.org/entry/231670 231670]]. GA1 is an autosomal recessive metabolic disorder characterized by progressive dystonia and athetosis due to gliosis and neuronal loss in the basal ganglia.<ref>PMID:18775954</ref><ref>PMID:8541831</ref><ref>PMID:9600243</ref><ref>PMID:8900227</ref><ref>PMID:8900228</ref><ref>PMID:14707522</ref> | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/GCDH_HUMAN GCDH_HUMAN]] Catalyzes the oxidative decarboxylation of glutaryl-CoA to crotonyl-CoA and CO(2) in the degradative pathway of L-lysine, L-hydroxylysine, and L-tryptophan metabolism. It uses electron transfer flavoprotein as its electron acceptor. Isoform Short is inactive. | |||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
<ref group="xtra">PMID:018020372</ref><references group="xtra"/> | <ref group="xtra">PMID:018020372</ref><references group="xtra"/><references/> | ||
[[Category: Glutaryl-CoA dehydrogenase]] | [[Category: Glutaryl-CoA dehydrogenase]] | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
