Recombinant Human GPI ethanolamine phosphate transferase 1 (PIGN), partial

中文名稱：

人PIGN重組蛋白
貨號：

CSB-YP017977HU
規(guī)格：
來源：

Yeast
其他：

中文名稱：

人PIGN重組蛋白
貨號：

CSB-EP017977HU
規(guī)格：
來源：

E.coli
其他：

中文名稱：

人PIGN重組蛋白
貨號：

CSB-EP017977HU-B
規(guī)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PIGN重組蛋白
貨號：

CSB-BP017977HU
規(guī)格：
來源：

Baculovirus
其他：

中文名稱：

人PIGN重組蛋白
貨號：

CSB-MP017977HU
規(guī)格：
來源：

Mammalian cell
其他：

產(chǎn)品詳情
產(chǎn)品評價
相關(guān)產(chǎn)品
靶點詳情

產(chǎn)品詳情

純度：

>85% (SDS-PAGE)
基因名：

PIGN
Uniprot No.：

O95427
別名：

PIGN; MCD4; GPI ethanolamine phosphate transferase 1; EC 2.-.-.-; MCD4 homolog; Phosphatidylinositol-glycan biosynthesis class N protein; PIG-N
種屬：

Homo sapiens (Human)
蛋白長度：

Partial
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(chǎn)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(fù)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(zhì)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(chǎn)品評價

靶點詳情

功能：

Ethanolamine phosphate transferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers ethanolamine phosphate to the first alpha-1,4-linked mannose of the glycosylphosphatidylinositol precursor of GPI-anchor. May act as suppressor of replication stress and chromosome missegregation.
基因功能參考文獻：
1. Loss of function PIGN alleles causes Fryns syndrome. Founder effect for PIGN intragenic deletion is observed in La Reunion and other Indian Ocean islands. PMID: 29330547
2. PIGN is a novel biomarker of CIN and leukemic transformation/progression in a subgroup of patients with MDS or AML-MRC. PMID: 28187452
3. Study reports compound heterozygous mutations in PIGN in two siblings with Fryns syndrome, and a homozygous mutation in an unrelated affected individual. However, two further individuals with Fryns syndrome did not carry mutations in this gene, suggesting genetic heterogeneity in this syndrome. PMID: 27038415
4. Disease associated mutation L311W reduces enzymatic activity rather than affecting protein levels. PMID: 28327575
5. PIGN-1/PIGN is required for quality control in Caenorhabditis elegans and in mammalian cells. PMID: 27980068
6. PIGN mutation is associated with multiple congenital anomalies hypotonia seizures syndrome related epilepsy. PMID: 26394714
7. The mutated PIGN caused a significant decrease of the overall glycosylphoshatidylinositol-anchored proteins and CD24 expression which is sufficient to cause severe phenotypic expression. PMID: 26364997
8. Findings confirm that developmental delay, hypotonia, and epilepsy combined with congenital anomalies are common phenotypes of PIGN mutations and add progressive cerebellar atrophy to this clinical spectrum. PMID: 24253414
9. PIGN encodes phosphatidylinositol-glycan biosynthesis class N protein. PMID: 22876578
10. Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN. PMID: 21493957
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相關(guān)疾?。?/div>
Multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1)
亞細胞定位：

Endoplasmic reticulum membrane; Multi-pass membrane protein.
蛋白家族：

PIGG/PIGN/PIGO family, PIGN subfamily
數(shù)據(jù)庫鏈接：

HGNC: 8967

OMIM: 606097

KEGG: hsa:23556

STRING: 9606.ENSP00000350263

UniGene: Hs.157031