PHYH recombinant protein

PHYH Protein, Human, Recombinant

Cat. Num. AAA8121391

• Gene Names: PHYH; RD; LN1; PAHX; LNAP1; PHYH1
• Purity: >80% as determined by SDS-PAGE
• Synonyms: PHYH; PHYH Protein; Human; Recombinant; Human PHYH Protein; LN1 Protein; LNAP1 Protein; PAHX Protein; PHYH1 Protein; RD Protein; phytanoyl-CoA 2-hydroxylase; PHYH recombinant protein

• Host: E Coli
• Purity/Purification: >80% as determined by SDS-PAGE
• Form/Format: Lyophilized from sterile 20mM mops, 10% glycerol, 2mM DDT, 1mM EDTA, 0.2mM PMSF, 0.2M NaCl, pH7.2. Normally 5%-8% trehalose, mannitol and 0.01% Tween80 are added as protectants before lyophilization. Please refer to the specific buffer information in the
• Sequence: Ser31-Leu338

• Species: Human
• Predicted N Terminal: Met
• Tag: Native
• Protein Construction: A DNA sequence encoding the human PHYH (O14832)(Ser31-Leu338) was expressed, with a N-terminal Met.
• Reconstitution: A hardcopy of COA with reconstitution instruction is sent along with the products. Please refer to it for detailed information.
• Preparation and Storage: Samples are stable for up to twelve months from date of receipt at -20 degree C to -80 degree C. Store it under sterile conditions at -20 degree C to -80 degree C. It is recommended that the protein be aliquoted for optimal storage. Avoid repeated freeze-thaw cycles.; In general, recombinant proteins are provided as lyophilized powder which are shipped at ambient temperature. Bulk packages of recombinant proteins are provided as frozen liquid.; They are shipped out with blue ice.

SDS-Page

Related Product Information for PHYH recombinant 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.

References

Mihalik SJ, et al. (1997) Identification of PAHX, a Refsum disease gene. Nat Genet. 17(2): 185-9.McDonough MA, et al. (2005) Structure of human phytanoyl-CoA 2-hydroxylase identifies molecular mechanisms of Refsum disease. J Biol Chem. 280(49):41101-10.Jansen GA, et al. (1998) Characterization of phytanoyl-Coenzyme A hydroxylase in human liver and activity measurements in patients with peroxisomal disorders. Clin Chim Acta. 271 (2):203-11.

NCBI and Uniprot Product Information

• NCBI GI #: 83281447
• NCBI GeneID: 5264
• NCBI Accession #: NP_001032626.1
• NCBI GenBank Nucleotide #: NM_001037537.1
• UniProt Accession #: O14832; A8MTS8; B1ALH5
• Molecular Weight: 27,291 Da
• NCBI Official Full Name: phytanoyl-CoA dioxygenase, peroxisomal isoform b
• NCBI Official Synonym Full Names: phytanoyl-CoA 2-hydroxylase
• NCBI Official Symbol: PHYH
• NCBI Official Synonym Symbols: RD; LN1; PAHX; LNAP1; PHYH1
• NCBI Protein Information: phytanoyl-CoA dioxygenase, peroxisomal
• UniProt Protein Name: Phytanoyl-CoA dioxygenase, peroxisomal
• Protein Family: Phytanoyl-CoA dioxygenase
• UniProt Gene Name: PHYH
• UniProt Synonym Gene Names: PAHX; PhyH

NCBI Description

This gene is a member of the PhyH family and encodes a peroxisomal protein that is involved in the alpha-oxidation of 3-methyl branched fatty acids. Specifically, this protein converts phytanoyl-CoA to 2-hydroxyphytanoyl-CoA. Mutations in this gene have been associated with Refsum disease (RD) and deficient protein activity has been associated with Zellweger syndrome and rhizomelic chondrodysplasia punctata. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

Uniprot Description

Converts phytanoyl-CoA to 2-hydroxyphytanoyl-CoA.