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. PHYH 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). In patients, phytanic acid, a branched-chain fatty acid, accumulates in the blood and tissues. Human PHYH Recombinant Protein is a highly pure recombinant protein developed by Assay Genie for use in a range of applications.
Product Name:
Human PHYH Recombinant Protein (RPES0130)
Product Code:
RPES0130
Size:
20µg
Species:
Human
Expressed Host:
E.coli
Synonyms:
LN1,LNAP1,PAHX,PHYH1,RD
Accession:
O14832
Sequence:
Ser31-Leu338
Fusion tag:
Endotoxin:
Please contact us for more information.
Protein Construction:
A DNA sequence encoding the human PHYH (O14832) (Ser31-Leu338) was expressed, with a N-terminal Met.
This product is provided as lyophilized powder which is shipped with ice packs.
Stability and Storage:
Lyophilized proteins are stable for up to 12 months when stored at -20 to -80°C. Reconstituted protein solution can be stored at 4-8°C for 2-7 days. Aliquots of reconstituted samples are stable at < -20°C for 3 months.
