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.
PHYH Gene
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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.