2a1x: Difference between revisions
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{{STRUCTURE_2a1x| PDB=2a1x | SCENE= }} | {{STRUCTURE_2a1x| PDB=2a1x | SCENE= }} | ||
===Human phytanoyl-coa 2-hydroxylase in complex with iron and 2-oxoglutarate=== | |||
{{ABSTRACT_PUBMED_16186124}} | |||
=== | ==Disease== | ||
[[http://www.uniprot.org/uniprot/PAHX_HUMAN PAHX_HUMAN]] Defects in PHYH are a cause of Refsum disease (RD) [MIM:[http://omim.org/entry/266500 266500]]. RD is an autosomal recessive disorder characterized clinically by a tetrad of abnormalities: retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia, and elevated protein levels in the cerebrospinal fluid (CSF). Patients exhibit accumulation of the branched-chain fatty acid, phytanic acid, in blood and tissues. Less constant features are nerve deafness, anosmia, skeletal abnormalities, ichthyosis, cataracts and cardiac impairment. Manifestations of the disease appear in the second or third decade of life.<ref>PMID:9326939</ref><ref>PMID:9326940</ref><ref>PMID:10767344</ref><ref>PMID:10709665</ref> | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/PAHX_HUMAN PAHX_HUMAN]] Converts phytanoyl-CoA to 2-hydroxyphytanoyl-CoA. | |||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
<ref group="xtra">PMID:016186124</ref><references group="xtra"/> | <ref group="xtra">PMID:016186124</ref><references group="xtra"/><references/> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Phytanoyl-CoA dioxygenase]] | [[Category: Phytanoyl-CoA dioxygenase]] | ||
