PHYH
phytanoyl-CoA 2-hydroxylase
Synonyms:
LN1, LNAP1, PAHX, PHYH1, RD
Species:
Human PHYH (5264), Mouse Phyh (16922), Rat Phyh (114209), domestic cat PHYH (101098238), naked mole-rat Phyh (101717354), domestic guinea pig Phyh (100721980), cow PHYH (281400), chicken PHYH (426601), Zebrafish phyh (550521)
UniProtKB ID:
Gene ID:
- Human(5264) 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]
- Mouse(16922) phytanoyl-CoA hydroxylase
- Rat(114209) phytanoyl-CoA 2-hydroxylase
- domestic cat(101098238) phytanoyl-CoA 2-hydroxylase
- naked mole-rat(101717354) phytanoyl-CoA 2-hydroxylase
- domestic guinea pig(100721980) phytanoyl-CoA 2-hydroxylase
- cow(281400) phytanoyl-CoA 2-hydroxylase
- chicken(426601) phytanoyl-CoA 2-hydroxylase
- Zebrafish(550521) phytanoyl-CoA 2-hydroxylase
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