Full Product Name
PHYH antibody
Product Synonym Names
RD; LN1; PAHX; LNAP1; PHYH1
Product Gene Name
anti-PHYH antibody
[Similar Products]
Research Use Only
For Research Use Only. Not for use in diagnostic procedures.
3D Structure
ModBase 3D Structure for O14832
Specificity
The antibody detects endogenous level of total PHYH antibody.
Purity/Purification
Antibodies were purified by affinity purification using immunogen.
Form/Format
Supplied at 1.0mg/mL in phosphate buffered saline (without Mg2+ and Ca2+), pH 7.4, 150mM NaCl, 0.02% sodium azide and 50% glycerol.
Concentration
1.0 mg/ml (lot specific)
Immunogen Type
Recombinant Protein
Immunogen Description
Recombinant protein of human PHYH.
Preparation and Storage
Store at -20 degree C
Other Notes
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.
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.
Product Categories/Family for anti-PHYH antibody
Total protein Ab
Applications Tested/Suitable for anti-PHYH antibody
Western Blot (WB), Immunofluorescence (IF)
Application Notes for anti-PHYH antibody
Western blotting: 1:500 - 1:2000
Immunofluorescence: 1:50 - 1:200
Western Blot (WB) of anti-PHYH antibody
Western blot analysis of extracts of various cell lines, using PHYH antibody.
Immunofluorescence (IF) of anti-PHYH antibody
Immunofluorescence analysis of U2OS cell using PHYH antibody. Blue: DAPI for nuclear staining.
NCBI/Uniprot data below describe general gene information for PHYH. It may not necessarily be applicable to this product.
NCBI Accession #
NP_001032626.1
[Other Products]
NCBI GenBank Nucleotide #
NM_001037537.1
[Other Products]
UniProt Primary Accession #
O14832
[Other Products]
UniProt Secondary Accession #
A8MTS8; B1ALH5[Other Products]
UniProt Related Accession #
O14832[Other Products]
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 [Similar Products]
NCBI Official Synonym Symbols
RD; LN1; PAHX; LNAP1; PHYH1
[Similar Products]
NCBI Protein Information
phytanoyl-CoA dioxygenase, peroxisomal
UniProt Protein Name
Phytanoyl-CoA dioxygenase, peroxisomal
UniProt Synonym Protein Names
Phytanic acid oxidase; Phytanoyl-CoA alpha-hydroxylase; PhyH
Protein Family
Phytanoyl-CoA dioxygenase
UniProt Gene Name
PHYH [Similar Products]
UniProt Synonym Gene Names
PAHX; PhyH [Similar Products]
UniProt Entry Name
PAHX_HUMAN
NCBI Summary for PHYH
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 Comments for PHYH
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
Research Articles on PHYH
1. Observational study of gene-disease association. (HuGE Navigator)
Precautions
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Disclaimer
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