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Article

Structure-function analysis of phytanoyl-CoA 2-hydroxylase mutations causing Refsum's disease.

Human molecular genetics - 1 Sept 2001

Mukherji M, Chien W, Kershaw N J, Clifton I J, Schofield C J, Wierzbicki A S, Lloyd M D

Abstract excerpt

Refsum's disease is a neurological syndrome characterized by adult-onset retinitis pigmentosa, anosmia, sensory neuropathy and phytanic acidaemia. Many cases are caused by mutations in peroxisomal oxygenase phytanoyl-CoA 2-hydroxylase (PAHX) which catalyses the initial alpha-oxidation step in the degradation of phytanic acid. Both pro and mature forms of recombinant PAHX were produced in Escherichia coli, highly...

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Identifiers

PMID: 11555634
DOI: 10.1093/hmg/10.18.1971

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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