Gene Data From HGNC: https://www.genenames.org/download/statistics-and-files/
Symbol:
PHYH
Name:
phytanoyl-CoA 2-hydroxylase
Location:
10p13
Locus Group:
protein-coding gene
Gene Type:
Protein Coding
Locus Type:
gene with protein product
DrugMatrix Data: https://cebs.niehs.nih.gov/cebs/paper/15670
DrugMatrix Gene Data For: 1 Matched Gene
Gene Name: phytanoyl-CoA hydroxylase (Refsum disease)
Symbol:
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.