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Recombinant Human PHYH Protein
SKU: PKSH030645-100
Recombinant Human PHYH Protein
| SKU # | PKSH030645 |
| Expression Host | E.coli |
Description
| Synonyms | LN1, LNAP1, PAHX, PHYH1, RD |
| Species | Human |
| Expression Host | E.coli |
| Sequence | Ser31-Leu338 |
| Accession | O14832 |
| Calculated Molecular Weight | 35.6 kDa |
| Observed Molecular Weight | 26-32 kDa |
| Tag | None |
| Bio-activity | Not validated for activity |
Properties
| Purity | > 80 % as determined by reducing SDS-PAGE. |
| Endotoxin | Please contact us for more information. |
| Storage | Generally, lyophilized proteins are stable for up to 12 months when stored at -20 to -80℃. Reconstituted protein solution can be stored at 4-8℃ for 2-7 days. Aliquots of reconstituted samples are stable at < -20℃ for 3 months. |
| Shipping | This product is provided as lyophilized powder which is shipped with ice packs. |
| Formulation | Lyophilized from sterile 20mM mops, 10% glycerol, 2mM DDT, 1mM EDTA, 0.2mM PMSF, 0.2M NaCl, pH 7.2 Normally 5% - 8% trehalose, mannitol and 0.01% Tween 80 are added as protectants before lyophilization. Please refer to the specific buffer information in the printed manual. |
| Reconstitution | Please refer to the printed manual for detailed information. |
Background
PHYH belongs to the family of iron(II)-dependent oxygenases, which typically incorporate one atom of dioxygen into the substrate and one atom into the succinate carboxylate group. PHYH is expressed in liver, kidney, and T-cells, but not in spleen, brain, heart, lung and skeletal muscle. It converts phytanoyl-CoA to 2-hydroxyphytanoyl-CoA. Defects in PHYH can cause Refsum disease (RD). RD is an autosomal recessive disorder characterized clinically by a tetrad of abnormalities: retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia, and elevated protein levels in the cerebrospinal fluid (CSF). Patients exhibit accumulation of the branched-chain fatty acid, phytanic acid, in blood and tissues.