1ege: Difference between revisions
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{{STRUCTURE_1ege| PDB=1ege | SCENE= }} | {{STRUCTURE_1ege| PDB=1ege | SCENE= }} | ||
===STRUCTURE OF T255E, E376G MUTANT OF HUMAN MEDIUM CHAIN ACYL-COA DEHYDROGENASE=== | |||
{{ABSTRACT_PUBMED_8823176}} | |||
=== | ==Disease== | ||
[[http://www.uniprot.org/uniprot/ACADM_HUMAN ACADM_HUMAN]] Defects in ACADM are the cause of acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:[http://omim.org/entry/201450 201450]]. It is an autosomal recessive disease which causes fasting hypoglycemia, hepatic dysfunction, and encephalopathy, often resulting in death in infancy.<ref>PMID:2393404</ref><ref>PMID:2394825</ref><ref>PMID:2251268</ref><ref>PMID:1684086</ref><ref>PMID:1902818</ref><ref>PMID:1671131</ref><ref>PMID:8198141</ref><ref>PMID:7603790</ref><ref>PMID:7929823</ref><ref>PMID:9158144</ref><ref>PMID:9882619</ref><ref>PMID:10767181</ref><ref>PMID:11349232</ref><ref>PMID:11409868</ref><ref>PMID:11486912</ref> | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/ACADM_HUMAN ACADM_HUMAN]] This enzyme is specific for acyl chain lengths of 4 to 16. | |||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
<ref group="xtra">PMID:008823176</ref><references group="xtra"/> | <ref group="xtra">PMID:008823176</ref><references group="xtra"/><references/> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Oxidoreductase]] | |||
[[Category: Ghisla, S.]] | [[Category: Ghisla, S.]] | ||
[[Category: Kim, J P.]] | [[Category: Kim, J P.]] | ||
