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.

Codice: PKSH030645_100μg | Marca: Elabscience | Confezionamento: 100μg

Specie: Human

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Codice: PKSH030645_100μg
Marca: Elabscience
Specie target: Human
Host: E.coli
Confezionamento: Lyophilized from sterile 20mM mops, 10% glycerol, 2mM DDT, 1mM EDTA, 0.2mM PMSF, 0.2M NaCl, pH 7.2<br/>Normally 5% - 8% trehalose, mannitol and 0.01% Tween 80 are added as protectants before lyophilization.<br/>Please refer to the specific buffer information in the printed manual.
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Stoccaggio: 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.
Ig target: LN1;LNAP1;PAHX;PHYH1;RD
Area di ricerca: Signal Transduction;Neuroscience;Cancer;metabolism;

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