NCBI Description of PHYH
|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.|
Community Annotation of PHYH Add / Edit PHYH: Annotations
No community annotations yet for PHYH.
• "Mouse over" a mutation to see details.
Click on a tumor type to see its full list of significant genes.