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Gene Review

Phyh  -  phytanoyl-CoA 2-hydroxylase

Rattus norvegicus

Synonyms: PhyH, Phytanic acid oxidase, Phytanoyl-CoA alpha-hydroxylase, Phytanoyl-CoA dioxygenase, peroxisomal
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Disease relevance of Phyh


High impact information on Phyh


  1. Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene. Jansen, G.A., Ofman, R., Ferdinandusse, S., Ijlst, L., Muijsers, A.O., Skjeldal, O.H., Stokke, O., Jakobs, C., Besley, G.T., Wraith, J.E., Wanders, R.J. Nat. Genet. (1997) [Pubmed]
  2. Phytanoyl-CoA hydroxylase from rat liver. Protein purification and cDNA cloning with implications for the subcellular localization of phytanic acid alpha-oxidation. Jansen, G.A., Ofman, R., Denis, S., Ferdinandusse, S., Hogenhout, E.M., Jakobs, C., Wanders, R.J. J. Lipid Res. (1999) [Pubmed]
  3. CYP4 isoform specificity in the omega-hydroxylation of phytanic acid, a potential route to elimination of the causative agent of Refsum's disease. Xu, F., Ng, V.Y., Kroetz, D.L., de Montellano, P.R. J. Pharmacol. Exp. Ther. (2006) [Pubmed]
  4. Phytanic acid alpha-oxidation: identification of 2-hydroxyphytanoyl-CoA lyase in rat liver and its localisation in peroxisomes. Jansen, G.A., Verhoeven, N.M., Denis, S., Romeijn, G., Jakobs, C., ten Brink, H.J., Wanders, R.J. Biochim. Biophys. Acta (1999) [Pubmed]
  5. The subcellular localization of phytanic acid oxidase in rat liver. Skjeldal, O.H., Stokke, O. Biochim. Biophys. Acta (1987) [Pubmed]
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