3b96: Difference between revisions
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{{STRUCTURE_3b96| PDB=3b96 | SCENE= }} | {{STRUCTURE_3b96| PDB=3b96 | SCENE= }} | ||
===Structural Basis for Substrate Fatty-Acyl Chain Specificity: Crystal Structure of Human Very-Long-Chain Acyl-CoA Dehydrogenase=== | |||
{{ABSTRACT_PUBMED_18227065}} | |||
=== | ==Disease== | ||
[[http://www.uniprot.org/uniprot/ACADV_HUMAN ACADV_HUMAN]] Defects in ACADVL are the cause of acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:[http://omim.org/entry/201475 201475]]. ACADVLD is an autosomal recessive disease which leads to impaired long-chain fatty acid beta-oxidation. It is clinically heterogeneous, with three major phenotypes: a severe childhood form, with early onset, high mortality, and high incidence of cardiomyopathy; a milder childhood form, with later onset, usually with hypoketotic hypoglycemia as the main presenting feature, low mortality, and rare cardiomyopathy; and an adult form, with isolated skeletal muscle involvement, rhabdomyolysis, and myoglobinuria, usually triggered by exercise or fasting.<ref>PMID:8554073</ref><ref>PMID:9546340</ref><ref>PMID:10077518</ref> | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/ACADV_HUMAN ACADV_HUMAN]] Active toward esters of long-chain and very long chain fatty acids such as palmitoyl-CoA, mysritoyl-CoA and stearoyl-CoA. Can accommodate substrate acyl chain lengths as long as 24 carbons, but shows little activity for substrates of less than 12 carbons.<ref>PMID:18227065</ref> | |||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
<ref group="xtra">PMID:018227065</ref><references group="xtra"/> | <ref group="xtra">PMID:018227065</ref><references group="xtra"/><references/> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: He, M.]] | [[Category: He, M.]] | ||
