PHYH Antibody (PACO43547)
- SKU:
- PACO43547
- Product type:
- Antibody
- Reactivity:
- Human
- Reactivity:
- Mouse
- Host Species:
- Rabbit
- Isotype:
- IgG
- Application:
- ELISA
- Application:
- WB
- Application:
- IHC
- Antibody type:
- Polyclonal
- Conjugation:
- Unconjugated
Frequently bought together:
Description
抗体名: | PHYH Antibody (PACO43547) |
抗体コード: | PACO43547 |
サイズ: | 50ul |
宿主種: | Rabbit |
申し込み: | ELISA, WB, IHC |
推奨される希釈: | ELISA:1:2000-1:10000, WB:1:200-1:1000, IHC:1:20-1:200 |
反応性: | Human, Mouse |
免疫原: | Recombinant Human Phytanoyl-CoA dioxygenase, peroxisomal protein (1-338AA) |
憲法: | Liquid |
ストレージバッファ: | PBS with 0.02% sodium azide, 50% glycerol, pH7.3. |
精製方法: | Antigen Affinity Purified |
抗体のクローン性: | Polyclonal |
アイソタイプ: | IgG |
Conjugate: | Non-conjugated |
![]() | Western blot. All lanes: Phytanoyl-CoA dioxygenase, peroxisomal antibody at 4µg/ml + Mouse liver tissue. Secondary. Goat polyclonal to rabbit IgG at 1/10000 dilution. Predicted band size: 39, 28 kDa. Observed band size: 39 kDa. |
![]() | Immunohistochemistry of paraffin-embedded human breast cancer using PACO43547 at dilution of 1:100. |
バックグラウンド: | Converts phytanoyl-CoA to 2-hydroxyphytanoyl-CoA. |
シノニム: | Phytanoyl-CoA dioxygenase, peroxisomal (EC 1.14.11.18) (Phytanic acid, oxidase) (Phytanoyl-CoA alpha-hydroxylase) (PhyH), PHYH, PAHX |
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 |