PHYH Protéine

N° du produit ABIN7317253

Protéine Recombinant PHYH exprimée dans Escherichia coli (E. coli).

Aperçu rapide pour PHYH Protéine (ABIN7317253)

Antigène: PHYH (Phytanoyl-CoA 2-Hydroxylase (PHYH))

Type de proteíne: Recombinant

Origine: Humain

Source: Escherichia coli (E. coli)

Pureté: > 80 % as determined by reducing SDS-PAGE.

Détail du produit

Fonction: Recombinant Human PHYH Protein

Séquence: Ser31-Leu338

Attributs du produit: A DNA sequence encoding the human PHYH (O14832) (Ser31-Leu338) was expressed, with a N-terminal Met.

Information d'application

Restrictions: For Research Use only

Stockage

Format: Lyophilized

Reconstitution: Please refer to the printed manual for detailed information.

Buffer: Lyophilized from sterile 20 mM mops, 10 % glycerol, 2 mM DDT, 1 mM EDTA, 0.2 mM PMSF, 0.2M NaCl, pH 7.2

Stock: 4 °C,-20 °C,-80 °C

Stockage commentaire: 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.

Détail du antigène

Antigène: PHYH (Phytanoyl-CoA 2-Hydroxylase (PHYH))

Autre désignation: PHYH

Sujet:

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.

Synonym: LN1,LNAP1,PAHX,PHYH1,RD

Poids moléculaire: 35.6 kDa

UniProt: O14832

Pathways: Monocarboxylic Acid Catabolic Process