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Structure of human phytanoyl-CoA 2-hydroxylase identifies molecular mechanisms of Refsum disease.

Abstract:

Refsum disease (RD), a neurological syndrome characterized by adult onset retinitis pigmentosa, anosmia, sensory neuropathy, and phytanic acidaemia, is caused by elevated levels of phytanic acid. Many cases of RD are associated with mutations in phytanoyl-CoA 2-hydroxylase (PAHX), an Fe(II) and 2-oxoglutarate (2OG)-dependent oxygenase that catalyzes the initial alpha-oxidation step in the degradation of phytenic acid in peroxisomes. We describe the x-ray crystallographic structure of PAHX to ...

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Publication status:
Published

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Publisher copy:
10.1074/jbc.m507528200

Authors


McDonough, MA More by this author
Kavanagh, KL More by this author
Oppermann, U More by this author
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Journal:
The Journal of biological chemistry
Volume:
280
Issue:
49
Pages:
41101-41110
Publication date:
2005-12-05
DOI:
EISSN:
1083-351X
ISSN:
0021-9258
URN:
uuid:f7db9ae6-f974-487a-91ff-3ea9f15fd48c
Source identifiers:
33244
Local pid:
pubs:33244

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