Aliases for PHYH Gene
External Ids for PHYH Gene
Previous GeneCards Identifiers for PHYH Gene
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. [provided by RefSeq, Jul 2008]
GeneCards Summary for PHYH Gene
PHYH (Phytanoyl-CoA 2-Hydroxylase) is a Protein Coding gene. Diseases associated with PHYH include refsum disease and phyh-related refsum disease. Among its related pathways are Metabolism and Peroxisomal lipid metabolism. GO annotations related to this gene include electron carrier activity and cofactor binding.
UniProtKB/Swiss-Prot for PHYH Gene
Converts phytanoyl-CoA to 2-hydroxyphytanoyl-CoA.