Human PHYH Recombinant Protein (RPES0130)

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SKU:
RPES0130
Product Type:
Recombinant Protein
Species:
Human

Description

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Human PHYH Recombinant Protein

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.

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