NPRL3 Antibody, FITC conjugated

Code CSB-PA619643LC01HU
Size US$166
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Product Details

Full Product Name
Rabbit anti-Homo sapiens (Human) NPRL3 Polyclonal antibody
Uniprot No.
Target Names
NPRL3
Alternative Names
otein antibody; Alpha-globin regulatory element-containing gene protein antibody; C16ORF35 antibody; CGTHBA antibody; Conserved gene telomeric to alpha globin cluster antibody; HS 40 antibody; MARE antibody; Nitrogen permease regulator 3-like protein antibody; Nitrogen permease regulator-like 3 (S. cerevisiae) antibody; NPR3 antibody; NPRL3 antibody; NPRL3_HUMAN antibody; Protein CGTHBA antibody; RMD11 antibody
Raised in
Rabbit
Species Reactivity
Human
Immunogen
Recombinant Human GATOR complex protein NPRL3 protein (349-482AA)
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
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
As a component of the GATOR1 complex functions as an inhibitor of the amino acid-sensing branch of the TORC1 pathway. The GATOR1 complex strongly increases GTP hydrolysis by RRAGA and RRAGB within RRAGC-containing heterodimers, thereby deactivating RRAGs, releasing mTORC1 from lysosomal surface and inhibiting mTORC1 signaling. The GATOR1 complex is negatively regulated by GATOR2 the other GATOR subcomplex in this amino acid-sensing branch of the TORC1 pathway.
Gene References into Functions
  1. This study demonstrated that mutation of NPRL3 in familial focal epilepsies and focal cortical dysplasia. PMID: 27173016
  2. NPRL3 mutations are significant cause of focal epilepsy. PMID: 26505888
  3. Mutations in NPRL3 are a novel cause of familial cortical dysplasia. PMID: 26285051
  4. NPRL3 is a candidate gene for harbouring mutations in individuals with developmental abnormalities of the cardiovascular system. PMID: 22538705
  5. NPRL3 is a target gene of the BACH1 transcription factor according to ChIP-seq analysis in HEK 293 cells. PMID: 21555518
  6. C16orf35 can modulate differentially the specific activities of selected p73 isoforms. PMID: 19666006

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Involvement in disease
Epilepsy, familial focal, with variable foci 3 (FFEVF3)
Subcellular Location
Lysosome membrane.
Protein Families
NPR3 family
Tissue Specificity
Widely expressed. Expressed in the frontal lobe cortex as well as in the temporal, parietal, and occipital lobes.
Database Links

HGNC: 14124

OMIM: 600928

KEGG: hsa:8131

STRING: 9606.ENSP00000382834

UniGene: Hs.19699

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