PHYH recombinant protein

Recombinant Human PHYH Protein

Cat. Num. AAA2545324

• Gene Names: PHYH; RD; LN1; PAHX; LNAP1; PHYH1
• Purity: > 80 % as determined by SDS-PAGE
• Synonyms: PHYH; Recombinant Human PHYH Protein; PAHX; 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, pH 7.2
• Sequence Length: 238

• Application Notes: The recombinant human PHYH consists of 309 amino acids and predicts a molecular mass of 35.6 KDa. It migrates as an approximately 26-32 KDa band in SDS-PAGE under reducing conditions.
• Predicted N Terminal: Met
• Preparation and Storage: Samples are stable for up to twelve months from date of receipt at -70 degree C

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.

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

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

PHYH: Converts phytanoyl-CoA to 2-hydroxyphytanoyl-CoA. Defects in PHYH are a cause of 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. Less constant features are nerve deafness, anosmia, skeletal abnormalities, ichthyosis, cataracts and cardiac impairment. Manifestations of the disease appear in the second or third decade of life. Belongs to the PhyH family.

Protein type: EC 1.14.11.18; Oxidoreductase

Chromosomal Location of Human Ortholog: 10p13

Cellular Component: peroxisomal matrix; peroxisome

Molecular Function: cofactor binding; phytanoyl-CoA dioxygenase activity; protein binding

Biological Process: fatty acid alpha-oxidation; isoprenoid metabolic process

Disease: Refsum Disease, Classic