PIGO Antibody

說明書

產品詳情

Uniprot No.：

Q8TEQ8
基因名：

PIGO
別名：

PIGO antibody; UNQ632/PRO1249 antibody; GPI ethanolamine phosphate transferase 3 antibody; EC 2.-.-.- antibody; Phosphatidylinositol-glycan biosynthesis class O protein antibody; PIG-O antibody
宿主：

Rabbit
反應種屬：

Human,Mouse,Rat
免疫原：

Human PIGO
免疫原種屬：

Homo sapiens (Human)
抗體亞型：

IgG
純化方式：

Antigen Affinity purified
濃度：

It differs from different batches. Please contact us to confirm it.
保存緩沖液：

PBS with 0.1% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
產品提供形式：

Liquid
應用范圍：

ELISA,WB,IHC,IF
Protocols：

ELISA Protocol
Western Blotting (WB) Protocol
Immunohistochemistry (IHC) Protocol
Immunofluorescence (IF) Protocol
儲存條件：

Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
貨期：

Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
用途：

For Research Use Only. Not for use in diagnostic or therapeutic procedures.

功能：

Ethanolamine phosphate transferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers ethanolamine phosphate to the GPI third mannose which links the GPI-anchor to the C-terminus of the proteins by an amide bond.
基因功能參考文獻：
1. PIGO deficiency shows variable phenotypes from infantile lethality to mild learning difficulties PMID: 28337824
2. Disease associated PIGO missense mutations resulted in decreased activity in vitro. PMID: 28327575
3. Novel PIGO mutations expand the clinical spectrum of PIGO abnormalities to include epileptic encephalopathy with mild elevation of alkaline phosphatase (ALP). PMID: 24417746
4. Our data identify PIGO as the second gene associated with HPMRS and suggest that a deficiency in GPI-anchor synthesis is the underlying molecular pathomechanism of HPMRS. PMID: 22683086
相關疾病：

Hyperphosphatasia with mental retardation syndrome 2 (HPMRS2)
亞細胞定位：

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

PIGG/PIGN/PIGO family, PIGO subfamily
數據庫鏈接：

HGNC: 23215

OMIM: 614730

KEGG: hsa:84720

STRING: 9606.ENSP00000339382

UniGene: Hs.522099

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