Recombinant Human PHYH Protein

• 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.

• Synonyms:

  LN1; LNAP1; PAHX; PHYH1; RD

• UniProt:

  O14832

• Accession Number:

  O14832

• Expression System:

  E.coli

• Tag:

  None

• Sequence:

  Ser31-Leu338

• Field of Research:

  Signal Transduction; Neuroscience; Cancer; metabolism

• Endotoxin:

  Please contact us for more information.

• Purity:

  > 80 % as determined by reducing SDS-PAGE.

• Bioactivity:

  Not validated for activity

• Reconstitution:

  Please refer to the printed manual for detailed information.

• Shipping Conditions:

  This product is provided as lyophilized powder which is shipped with ice packs.

• Storage Conditions:

  Generally, 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.

• Calculated Molecular Weight:

  35.6 kDa

• Observed Molecular Weight:

  26-32 kDa

• Species:

  Human