PIGN Antibody, FITC conjugated

Code CSB-PA017977LC01HU
Size US$299
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Product Details

Full Product Name Rabbit anti-Homo sapiens (Human) PIGN Polyclonal antibody
Uniprot No. O95427
Target Names PIGN
Alternative Names PIGN antibody; MCD4 antibody; GPI ethanolamine phosphate transferase 1 antibody; EC 2.-.-.- antibody; MCD4 homolog antibody; Phosphatidylinositol-glycan biosynthesis class N protein antibody; PIG-N antibody
Raised in Rabbit
Species Reactivity Human
Immunogen Recombinant Human GPI ethanolamine phosphate transferase 1 protein (27-181AA)
Immunogen Species Homo sapiens (Human)
Conjugate FITC
Clonality Polyclonal
Isotype IgG
Purification Method >95%, Protein G purified
Concentration It differs from different batches. Please contact us to confirm it.
Buffer Preservative: 0.03% Proclin 300
Constituents: 50% Glycerol, 0.01M PBS, pH 7.4
Form Liquid
Tested Applications ELISA
Protocols ELISA Protocol
Troubleshooting and FAQs Antibody 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.

Target Data

Function 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 (By similarity). May act as suppressor of replication stress and chromosome missegregation.
Gene References into Functions
  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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Involvement in disease Multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1)
Subcellular Location Endoplasmic reticulum membrane, Multi-pass membrane protein
Protein Families PIGG/PIGN/PIGO family, PIGN subfamily
Database Links

HGNC: 8967

OMIM: 606097

KEGG: hsa:23556

STRING: 9606.ENSP00000350263

UniGene: Hs.157031

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