The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
Use a concentration of 1 µg/ml. Predicted molecular weight: 38 kDa. Good results were obtained when blocked with 5% non-fat dry milk in 0.05% PBS-T.
Converts phytanoyl-CoA to 2-hydroxyphytanoyl-CoA.
Expressed in liver, kidney, and T-cells, but not in spleen, brain, heart, lung and skeletal muscle.
Lipid metabolism; fatty acid metabolism.
Involvement in 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.