PHYH, Official Symbol PHYHprovided by HGNC Official Full Name phytanoyl-CoA 2-hydroxylaseprovided by HGNC Primary source HGNC:HGNC:8940 See related Ensembl:ENSG00000107537 MIM:602026; AllianceGenome:HGNC:8940 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as RD; LN1; PAHX; LNAP1; PHYH1 Summary 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. [provided by RefSeq, Jul 2008] Expression Broad expression in liver (RPKM 137.6), kidney (RPKM 65.7) and 17 other tissues See more Orthologs mouse all