Gene:
phytanoyl-CoA hydroxylase (Refsum disease)
Gene ID:
209614
Symbol:
PHYH
Species:
1000
Description:
The protein encoded by this gene is a peroxisomal enzyme. It catalyzes the initial alpha-oxidation step in the degradation of phytanic acid and converts phytanoyl-CoA to 2-hydroxyphytanoyl-CoA. It interacts specifically with the immunophilin FKBP52. Refsum disease, an autosomal recessive neurologic disorder, is caused by the deficiency of this encoded protein.