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| Reactivity | Human |
| Tested applications | WB IHC IF |
| Recommended Dilution | WB 1:500 - 1:2000 IHC 1:50 - 1:200 IF 1:10 - 1:100 |
| Calculated MW | 38kDa |
| Observed MW | Refer to Figures |
| Immunogen | Recombinant protein of human PHYH |
| Storage Buffer | Store at -20℃. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3. |
| Synonym | RD; LN1; PAHX; LNAP1; PHYH1; |
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.
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