Recombinant Human PHYH Protein

Specifications

Catalog number

PKSH030645

Size / count

100 µg

Dry ice

No

Hazardous

No

Discontinued

No

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