DefinitionThis section has been translated automatically.
The PHYH gene (PHYH stands for phytanoyl-CoA 2-hydroxylase) is a protein-coding gene located on chromosome 10p13. Alternative transcriptional splice variants encoding different isoforms have been characterized.
General informationThis section has been translated automatically.
The PHYH gene belongs to the PhyH family and encodes a peroxisomal protein (PAHX), a hydroxylase involved in the alpha-oxidation of branched 3-methyl fatty acids. Specifically, the enzyme converts phytanoyl-CoA to 2-hydroxyphytanoyl-CoA.
Catalyzes the 2-hydroxylation not only of racemic phytanoyl-CoA and the isomers of 3-methylhexadecanoyl-CoA, but also of a variety of other mono-branched 3-methylacyl-CoA esters (with a chain length of at least seven carbon atoms) and straight-chain acyl-CoA esters (with a chain length of more than four carbon atoms).
Diseases associated with PHYH include:
- Refsum syndrome, classic (Finsterer J et al 2008).
- and
- Retinitis pigmentosa.
Deficient enzyme activity has been associated with Zellweger syndrome and rhizomelic chondrodysplasia punctata.
