You have no items in your shopping cart.
Cart summary
PHYH Protein, Human, Recombinant
Catalog Number: orb1956588
| Catalog Number | orb1956588 |
|---|---|
| Category | Proteins |
| Description | 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. |
| Tag | Tag Free |
| Purity | 98.00% |
| UniProt ID | O14832 |
| MW | 35.6 kDa (predicted); 26-32 kDa (reducing conditions) |
| Application notes | A Certificate of Analysis (CoA) containing reconstitution instructions is included with the products. Please refer to the CoA for detailed information. |
| Expression System | E. coli |
| Biological Origin | Human |
| Biological Activity | 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. |
| Expression Region | A DNA sequence encoding the human PHYH (O14832) (Ser31-Leu338) was expressed, with a N-terminal Met. Predicted N terminal: Met |
| Storage | -20°C |
| Note | For research use only |
- Item 1 of 1
- Item 1 of 1
Human PHYH protein [orb54262]
Greater than 90% as determined by SDS-PAGE.
62.4 kDa
E.coli
20 μg, 100 μg, 1 mg
