PIGT Antibody

Code CSB-PA017983GA01HU
Size $600
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Product Details

Uniprot No.
Target Names
PIGT
Alternative Names
PIGT antibody; CGI-06 antibody; PSEC0163 antibody; UNQ716/PRO1379 antibody; GPI transamidase component PIG-T antibody; Phosphatidylinositol-glycan biosynthesis class T protein antibody
Raised in
Rabbit
Species Reactivity
Human,Mouse,Rat
Immunogen
Human PIGT
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 0.02% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
Tested Applications
ELISA,WB,IHC
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
Component of the GPI transamidase complex. Essential for transfer of GPI to proteins, particularly for formation of carbonyl intermediates.
Gene References into Functions
  1. Whole-exome sequencing revealed compound heterozygous mutations (c.250G > T, p.Glu84X and c.1096G > T, p.Gly366Trp) in PIGT (NM_015937.5), which were confirmed using Sanger sequencing. Thus inherited GPI anchor deficiency associated with these PIGT mutations was diagnosed PMID: 28728837
  2. PIGT-knockout HEK293 cells showed that p.(E237Q) results in a small reduction in the amount of CD59 anchored to the cell membrane. PMID: 28327575
  3. mutations in PIGT as the cause of a novel autosomal recessive intellectual disability syndrome PMID: 23636107
  4. Germline mutation and a somatic mutation in PIGT is associated with paroxysmal nocturnal hemoglobinuria. PMID: 23733340
  5. ER-localized because of information in its transmembrane span PMID: 15713669

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Involvement in disease
Multiple congenital anomalies-hypotonia-seizures syndrome 3 (MCAHS3); Paroxysmal nocturnal hemoglobinuria 2 (PNH2)
Subcellular Location
Endoplasmic reticulum membrane; Single-pass type I membrane protein.
Protein Families
PIGT family
Database Links

HGNC: 14938

OMIM: 610272

KEGG: hsa:51604

STRING: 9606.ENSP00000279036

UniGene: Hs.437388

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7505 Fannin St., Ste 610, Room 7 (CUBIO Innovation Center), Houston, TX 77054, USA
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