PHYH Antibody (PACO16866)
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주문- SKU:
- PACO16866
- Product type:
- Antibody
- Reactivity:
- Human
- Host Species:
- Rabbit
- Isotype:
- IgG
- Application:
- ELISA
- Application:
- IHC
- Antibody type:
- Polyclonal
- Conjugation:
- Unconjugated
Frequently bought together:
Description
Antibody Name: | PHYH Antibody (PACO16866) |
Antibody SKU: | PACO16866 |
Size: | 50ul |
Host Species: | Rabbit |
Tested Applications: | ELISA, IHC |
Recommended Dilutions: | ELISA:1:1000-1:2000, IHC:1:25-1:100 |
Species Reactivity: | Human |
Immunogen: | Fusion protein of human PHYH |
Form: | Liquid |
Storage Buffer: | -20°C, pH7.4 PBS, 0.05% NaN3, 40% Glycerol |
Purification Method: | Antigen affinity purification |
Clonality: | Polyclonal |
Isotype: | IgG |
Conjugate: | Non-conjugated |
![]() | The image on the left is immunohistochemistry of paraffin-embedded Human prostate cancer tissue using PACO16866(PHYH Antibody) at dilution 1/30, on the right is treated with fusion protein. (Original magnification: x200). |
![]() | The image on the left is immunohistochemistry of paraffin-embedded Human thyroid cancer tissue using PACO16866(PHYH Antibody) at dilution 1/30, on the right is treated with fusion protein. (Original magnification: x200). |
Background: | 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 acid, . 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. |
Synonyms: | phytanoyl-CoA 2-hydroxylase |
UniProt Protein Function: | 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. |
UniProt Protein Details: | 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 |
NCBI Summary: | 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 Code: | O14832 |
NCBI GenInfo Identifier: | 6093646 |
NCBI Gene ID: | 5264 |
NCBI Accession: | O14832.1 |
UniProt Secondary Accession: | O14832,A8MTS8, B1ALH5, |
UniProt Related Accession: | O14832 |
Molecular Weight: | 27,291 Da |
NCBI Full Name: | Phytanoyl-CoA dioxygenase, peroxisomal |
NCBI 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 |
UniProt Synonym Protein Names: | Phytanic acid oxidase; Phytanoyl-CoA alpha-hydroxylase; PhyH |
Protein Family: | Phytanoyl-CoA dioxygenase |
UniProt Gene Name: | PHYH |
UniProt Entry Name: | PAHX_HUMAN |