功能Converts phytanoyl-CoA to 2-hydroxyphytanoyl-CoA.
组织特异性Expressed in liver, kidney, and T-cells, but not in spleen, brain, heart, lung and skeletal muscle.
通路Lipid metabolism; fatty acid metabolism.
疾病相关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.