基因名：
PHYH
产品别名：
LN1； LNAP1； PAHX； PHYH1； RD； PHYH； phytanoyl-CoA 2-hydroxylase； phytanoyl-CoA 2-hydroxylase； phytanoyl-CoA dioxygenase, peroxisomal； phytanic acid oxidase； phytanoil-CoA alpha hydroxylase； phytanoyl-CoA 2 oxoglutarate dioxygenase； phytanoyl-CoA alpha-hydroxylase； 植烷酸氧化酶；
背景信息：
This gene is a member of the PhyH family and encodes a peroxisomal protein that is involved in the alpha-oxidation of 3-methyl branched fatty acids. Specifically, this protein converts phytanoyl-CoA to 2-hydroxyphytanoyl-CoA. Mutations in this gene have been associated with Refsum disease (RD) and deficient protein activity has been associated with Zellweger syndrome and rhizomelic chondrodysplasia punctata. Alternate transcriptional splice variants, encoding different isoforms, have been characterized.
