Rabbit PHYH Polyclonal Antibody | anti-PHYH antibody

PHYH Polyclonal Antibody

Cat. Num. AAA2523911

• Gene Names: PHYH; RD; LN1; PAHX; LNAP1; PHYH1
• Reactivity: Human, Mouse, Rat
• Applications: ELISA, Immunohistochemistry
• Purity: Antigen affinity purification
• Synonyms: PHYH; Polyclonal Antibody; PHYH Polyclonal Antibody; RD; LN1; PAHX; LNAP1; PHYH1; anti-PHYH antibody

• Host: Rabbit
• Reactivity: Human, Mouse, Rat
• Clonality: Polyclonal
• Isotype: IgG
• Purity/Purification: Antigen affinity purification
• Concentration: 1.8mg/mL (varies by lot)
• Sequence Length: 338

• Applicable Applications for anti-PHYH antibody: ELISA (EIA), Immunohistochemistry (IHC)
• Application Notes: IHC: 1:25-1:100
• Immunogen: Recombinant protein of human PHYH
• Buffer: PBS with 0.05% sodium azide, 50% glycerol, pH7.3
• Preparation and Storage: Store at -20 degree C (regular) and -80 degree C (long term). Avoid freeze / thaw cycles.

Immunohistochemistry (IHC)

(Immunohistochemistry of paraffin-embedded Human thyroid cancer tissue using PHYH Polyclonal Antibody at dilution 1:30)

Immunohistochemistry (IHC)

(Immunohistochemistry of paraffin-embedded Human prostate cancer tissue using PHYH Polyclonal Antibody at dilution 1:30)

Related Product Information for anti-PHYH antibody

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.

NCBI and Uniprot Product Information

• NCBI GI #: 49457063
• NCBI GeneID: 5264
• Molecular Weight: 27,291 Da
• NCBI Official Full Name: PHYH, partial
• 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; phytanic acid oxidase; phytanoil-CoA alpha hydroxylase; phytanoyl-CoA 2 oxoglutarate dioxygenase; phytanoyl-CoA alpha-hydroxylase
• UniProt Protein Name: Phytanoyl-CoA dioxygenase, peroxisomal
• Protein Family: Phytanoyl-CoA dioxygenase
• UniProt Gene Name: PHYH
• UniProt Synonym Gene Names: PAHX; PhyH
• UniProt Entry Name: PAHX_HUMAN

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: Oxidoreductase; EC 1.14.11.18

Chromosomal Location of Human Ortholog: 10p13

Cellular Component: peroxisomal matrix; mitochondrion; peroxisome

Molecular Function: protein binding; electron carrier activity; L-ascorbic acid binding; metal ion binding; cofactor binding; phytanoyl-CoA dioxygenase activity

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

Disease: Refsum Disease, Classic