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3 heterozygous variants: c.85C>T (p.Pro29Ser), c.135-2A>G, and c.768del63bp (p.Phe257Glnfs*16) were found in a family with Refsum's disease.
substrate specificity of PAHX is broader than expected, so Refsum disease might be characterized by an accumulation of not only phytanic acid but also other 3-alkyl-branched fatty acids
Ten novel PHYH mutations found in Refsum disease patients.
demonstrate that both unprocessed and processed forms are able to hydroxylate a range of CoA derivatives; site-directed mutagenesis was used to support proposals for the identity of the iron binding istes of PAHX
manner in which phytanoyl-CoA 2-hydroxylase (PAHX) binds to iron(II) and 2-oxoglutarate at its active site distinguishes it from that of the other human 2-oxoglutarate (2OG)-dependent oxygenase
In the absence of elevated phytanic acid concentrations, clinical neurologic abnormalities in heterozygous relatives of Refsum patients are not attributable to heterozygosity for PAHX mutations.
This gene is a member of the PhyH family and encodes a peroxisomal protein that is involved in the alpha-oxidation of 3-methyl branched fatty acids. Specifically, this protein converts phytanoyl-CoA to 2-hydroxyphytanoyl-CoA. Mutations in this gene have been associated with Refsum disease (RD) and deficient protein activity has been associated with Zellweger syndrome and rhizomelic chondrodysplasia punctata. Alternate transcriptional splice variants, encoding different isoforms, have been characterized.
phytanoyl-CoA hydroxylase (Refsum disease)
, phytanoyl-CoA 2-hydroxylase
, phytanoyl-CoA dioxygenase, peroxisomal
, phytanoyl-CoA hydroxylase
, phytanic acid oxidase
, phytanoil-CoA alpha hydroxylase
, phytanoyl-CoA 2 oxoglutarate dioxygenase
, phytanoyl-CoA alpha-hydroxylase
, lupus nephritis-associated peptide 1