1s9c: Difference between revisions
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{{STRUCTURE_1s9c| PDB=1s9c | SCENE= }} | {{STRUCTURE_1s9c| PDB=1s9c | SCENE= }} | ||
===Crystal structure analysis of the 2-enoyl-CoA hydratase 2 domain of human peroxisomal multifunctional enzyme type 2=== | |||
{{ABSTRACT_PUBMED_15644212}} | |||
=== | ==Disease== | ||
[[http://www.uniprot.org/uniprot/DHB4_HUMAN DHB4_HUMAN]] Defects in HSD17B4 are a cause of D-bifunctional protein deficiency (DBPD) [MIM:[http://omim.org/entry/261515 261515]]. DBPD is a disorder of peroxisomal fatty acid beta-oxidation.<ref>PMID:9482850</ref><ref>PMID:10400999</ref><ref>PMID:11743515</ref> Defects in HSD17B4 are the cause of Perrault syndrome (PRLTS1) [MIM:[http://omim.org/entry/233400 233400]]. A sex-influenced disorder characterized by sensorineural deafness in both males and females and ovarian dysgenesis in females. Some patients also have neurologic manifestations, including mild mental retardation and cerebellar and peripheral nervous system involvement.<ref>PMID:20673864</ref> | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/DHB4_HUMAN DHB4_HUMAN]] Bifunctional enzyme acting on the peroxisomal beta-oxidation pathway for fatty acids. Catalyzes the formation of 3-ketoacyl-CoA intermediates from both straight-chain and 2-methyl-branched-chain fatty acids.<ref>PMID:9089413</ref><ref>PMID:8902629</ref> | |||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
<ref group="xtra">PMID:015644212</ref><references group="xtra"/> | <ref group="xtra">PMID:015644212</ref><references group="xtra"/><references/> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Glumoff, T.]] | [[Category: Glumoff, T.]] | ||
