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Article

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

The Journal of biological chemistry - 9 Dec 2005

McDonough Michael A, Kavanagh Kathryn L, Butler Danica, Searls Timothy, Oppermann Udo, Schofield Christopher J

Abstract excerpt

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...

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PMID: 16186124
DOI: 10.1074/jbc.M507528200

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Structure of human phytanoyl-CoA 2-hydroxylase identifies molecular mechanisms of Refsum disease.PMID 16186124Read ↗

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Molecular basis of Refsum disease: sequence variations in phytanoyl-CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7).Semantic proximity Read ↗

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