ID:PAHX_HUMAN DESCRIPTION: RecName: Full=Phytanoyl-CoA dioxygenase, peroxisomal; EC=1.14.11.18; AltName: Full=Phytanic acid oxidase; AltName: Full=Phytanoyl-CoA alpha-hydroxylase; Short=PhyH; Flags: Precursor; FUNCTION: Converts phytanoyl-CoA to 2-hydroxyphytanoyl-CoA. CATALYTIC ACTIVITY: Phytanoyl-CoA + 2-oxoglutarate + O(2) = 2- hydroxyphytanoyl-CoA + succinate + CO(2). COFACTOR: Iron. COFACTOR: Ascorbate. PATHWAY: Lipid metabolism; fatty acid metabolism. SUBUNIT: Interacts specifically with the immunophilin FKBP52 and PHYHIP. INTERACTION: Q9UNS2:COPS3; NbExp=1; IntAct=EBI-721853, EBI-350590; Q9P2S5:WDR8; NbExp=1; IntAct=EBI-721853, EBI-1054904; SUBCELLULAR LOCATION: Peroxisome. TISSUE SPECIFICITY: Expressed in liver, kidney, and T-cells, but not in spleen, brain, heart, lung and skeletal muscle. DISEASE: Defects in PHYH are a cause of Refsum disease (RD) [MIM:266500]. RD is an autosomal recessive disorder characterized clinically by a tetrad of abnormalities: retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia, and elevated protein levels in the cerebrospinal fluid (CSF). Patients exhibit accumulation of the branched-chain fatty acid, phytanic acid, in blood and tissues. Less constant features are nerve deafness, anosmia, skeletal abnormalities, ichthyosis, cataracts and cardiac impairment. Manifestations of the disease appear in the second or third decade of life. SIMILARITY: Belongs to the PhyH family. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PHYH";
Protein Domain and Structure Information
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