PHYH, Polyclonal Antibody

RD; LN1; PAHX; LNAP1; PHYH1

For Research Use Only. Not for use in diagnostic procedures.

Polyclonal

Rabbit

The antibody detects endogenous levels of total PHYH protein.

Antigen affinity purification.

Rabbit IgG in pH7.3 PBS, 0.05% NaN3, 50% Glycerol.

1.2 mg/ml (lot specific)

Store at -20 degree C

Small volumes of anti-PHYH antibody vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

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.

Total protein Ab

Western Blot (WB), Immunohistochemistry (IHC)

Western blotting: 1:500-1:2000
Immunohistochemistry: 1:25-1:100

Gel: 10%SDS-PAGE Lysates (from left to right): A549 cell and mouse liver tissue Amount of lysate: 40ug per lane Primary antibody: 1/300 dilution Secondary antibody dilution: 1/8000 Exposure time: 1 minute

Immunohistochemical analysis of paraffin-embedded Human thyroid cancer tissue using at dilution 1/20.

27,291 Da

phytanoyl-CoA 2-hydroxylase

phytanoyl-CoA dioxygenase, peroxisomal

Phytanoyl-CoA dioxygenase, peroxisomal

PAHX; PhyH  [Similar Products]

PAHX_HUMAN

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]

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; 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

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