PHYH polyclonal antibody

PHYH (phytanoyl-CoA 2-hydroxylase), also known as RD, LN1, PAHX or LNAP1, is a 338 amino acid protein that localizes to the peroxisome and plays an important role in fatty acid metabolism. Expressed in kidney, liver and T cells, PHYH uses iron and ascorbate as cofactors to catalyze the conversion of phytanoyl-CoA to 2-hydroxyphytanoyl-CoA, a reaction that is involved in the alpha-oxidation of 3-methyl branched fatty acids. Defects in the gene encoding PHYH are associated with Refsum disease (RD), an autosomal recessive disorder that is characterized by retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia, nerve deafness, anosmia, skeletal abnormalities, ichthyosis, cataracts and cardiac impairment, all of which usually develop during the second or third decade of life.