Journal article

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

M Mukherji, W Chien, NJ Kershaw, IJ Clifton, CJ Schofield, AS Wierzbicki, MD Lloyd

Human Molecular Genetics | OXFORD UNIV PRESS | Published : 2001

Abstract

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 purified, and shown to have a requirement for iron(II) as a co-factor and 2-oxoglutarate as a co-substrate. Sequence analysis in the light of crystallographic data for other members of the 2-oxoglutarate-dependent oxygenase super-family led to secondary structural predictions for PAH..

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University of Melbourne Researchers