PIGO Antibody

Code CSB-PA017978GA01HU
Size $600
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Product Details

Uniprot No.
Target Names
PIGO
Alternative Names
PIGO antibody; UNQ632/PRO1249 antibody; GPI ethanolamine phosphate transferase 3 antibody; EC 2.-.-.- antibody; Phosphatidylinositol-glycan biosynthesis class O protein antibody; PIG-O antibody
Raised in
Rabbit
Species Reactivity
Human,Mouse,Rat
Immunogen
Human PIGO
Immunogen Species
Homo sapiens (Human)
Isotype
IgG
Purification Method
Antigen Affinity purified
Concentration
It differs from different batches. Please contact us to confirm it.
Buffer
PBS with 0.1% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
Tested Applications
ELISA,WB,IHC,IF
Troubleshooting and FAQs
Storage
Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
Lead Time
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.

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Target Background

Function
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.
Gene References into Functions
  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
Involvement in disease
Hyperphosphatasia with mental retardation syndrome 2 (HPMRS2)
Subcellular Location
Endoplasmic reticulum membrane; Multi-pass membrane protein.
Protein Families
PIGG/PIGN/PIGO family, PIGO subfamily
Database Links

HGNC: 23215

OMIM: 614730

KEGG: hsa:84720

STRING: 9606.ENSP00000339382

UniGene: Hs.522099

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