Recombinant Human Phytanoyl-CoA dioxygenase, peroxisomal (PHYH)

中文名稱：

人PHYH重組蛋白
貨號：

CSB-YP017946HU
規格：
來源：

Yeast
其他：

中文名稱：

人PHYH重組蛋白
貨號：

CSB-EP017946HU-B
規格：
來源：

E.coli
共軛：

Avi-tag Biotinylated
E. coli biotin ligase (BirA) is highly specific in covalently attaching biotin to the 15 amino acid AviTag peptide. This recombinant protein was biotinylated in vivo by AviTag-BirA technology, which method is BriA catalyzes amide linkage between the biotin and the specific lysine of the AviTag.
其他：

中文名稱：

人PHYH重組蛋白
貨號：

CSB-BP017946HU
規格：
來源：

Baculovirus
其他：

中文名稱：

人PHYH重組蛋白
貨號：

CSB-MP017946HU
規格：
來源：

Mammalian cell
其他：

產品詳情
產品評價
相關產品
靶點詳情

產品詳情

純度：

>85% (SDS-PAGE)
基因名：

PHYH
Uniprot No.：

O14832
別名：

LN1; LNAP1; LNAP1, mouse, homolog of; OTTHUMP00000019131; OTTHUMP00000019132; OTTHUMP00000179083; OTTHUMP00000216226; PAHX; PAHX_HUMAN; peroxisomal; PhyH; PHYH1; Phytanic acid oxidase; phytanoil-CoA alpha hydroxylase; phytanoyl CoA 2 hydroxylase; Phytanoyl CoA 2 oxoglutarate dioxygenase; Phytanoyl CoA alpha hydroxylase; Phytanoyl CoA dioxygenase; Phytanoyl CoA dioxygenase peroxisomal; Phytanoyl-CoA alpha-hydroxylase; Phytanoyl-CoA dioxygenase; RD
種屬：

Homo sapiens (Human)
蛋白長度：

Full length protein
表達區域：

31-338
氨基酸序列

SGTISSASFH PQQFQYTLDN NVLTLEQRKF YEENGFLVIK NLVPDADIQR FRNEFEKICR KEVKPLGLTV MRDVTISKSE YAPSEKMITK VQDFQEDKEL FRYCTLPEIL KYVECFTGPN IMAMHTMLIN KPPDSGKKTS RHPLHQDLHY FPFRPSDLIV CAWTAMEHIS RNNGCLVVLP GTHKGSLKPH DYPKWEGGVN KMFHGIQDYE ENKARVHLVM EKGDTVFFHP LLIHGSGQNK TQGFRKAISC HFASADCHYI DVKGTSQENI EKEVVGIAHK FFGAENSVNL KDIWMFRARL VKGERTNL
蛋白標簽：

Tag?type?will?be?determined?during?the?manufacturing?process.

The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.
產品提供形式：

Lyophilized powder
Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
復溶：

We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
儲存條件：

Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
保質期：

The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
貨期：

Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
注意事項：

Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
Datasheet ：

Please contact us to get it.

產品評價

靶點詳情

功能：

Catalyzes the 2-hydroxylation of not only racemic phytanoyl-CoA and the isomers of 3-methylhexadecanoyl-CoA, but also a variety of other mono-branched 3-methylacyl-CoA esters (with a chain length of at least seven carbon atoms) and straight-chain acyl-CoA esters (with a chain length longer than four carbon atoms). Does not hydroxylate long and very long straight chain acyl-CoAs or 2-methyl- and 4-methyl-branched acyl-CoAs.
基因功能參考文獻：
1. 3 heterozygous variants: c.85C>T (p.Pro29Ser), c.135-2A>G, and c.768del63bp (p.Phe257Glnfs*16) were found in a family with Refsum's disease. PMID: 28681609
2. substrate specificity of PAHX is broader than expected, so Refsum disease might be characterized by an accumulation of not only phytanic acid but also other 3-alkyl-branched fatty acids PMID: 12923223
3. Ten novel PHYH mutations found in Refsum disease patients. PMID: 14974078
4. demonstrate that both unprocessed and processed forms are able to hydroxylate a range of CoA derivatives; site-directed mutagenesis was used to support proposals for the identity of the iron binding istes of PAHX PMID: 15930519
5. manner in which phytanoyl-CoA 2-hydroxylase (PAHX) binds to iron(II) and 2-oxoglutarate at its active site distinguishes it from that of the other human 2-oxoglutarate (2OG)-dependent oxygenase PMID: 16186124
6. In the absence of elevated phytanic acid concentrations, clinical neurologic abnormalities in heterozygous relatives of Refsum patients are not attributable to heterozygosity for PAHX mutations. PMID: 18612766
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相關疾病：

Refsum disease (RD)
亞細胞定位：

Peroxisome.
蛋白家族：

PhyH family
組織特異性：

Expressed in liver, kidney, and T-cells, but not in spleen, brain, heart, lung and skeletal muscle.
數據庫鏈接：

HGNC: 8940

OMIM: 266500

KEGG: hsa:5264

STRING: 9606.ENSP00000263038

UniGene: Hs.498732