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SKU: E-AB-53023_120μL-ES
NPHP1 Polyclonal Antibody, 120 μL
This gene encodes a protein with src homology domain 3 (SH3) patterns. This protein interacts with Crk-associated substrate, and it appears to function in the control of cell division, as well as in cell-cell and cell-matrix adhesion signaling, likely as part of a multifunctional complex localized in actin- and microtubule-based structures. Mutations in this gene cause familial juvenile nephronophthisis type 1, a kidney disorder involving both tubules and glomeruli. Defects in this gene are also associated with Senior-Loken syndrome type 1, also referred to as juvenile nephronophthisis with Leber amaurosis, which is characterized by kidney and eye disease, and with Joubert syndrome type 4, which is characterized by cerebellar ataxia, oculomotor apraxia, psychomotor delay and neonatal breathing abnormalities, sometimes including retinal dystrophy and renal disease. Multiple transcript variants encoding different isoforms have been found for this gene.
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Product Specification
Basic Information
Brands:Elabscience
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Place of Origin:China
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Shipping:The product is shipped with ice pack,upon receipt,store it immediately at the temperature recommended.
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Calculated Molecular Weight:83 kDa
Observed Molecular Weight:Refer to figures
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Shelf Life:12 months
Storage:Store at -20°C Valid for 12 months. Avoid freeze / thaw cycles.
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Calculated Molecular Weight:83 kDa
Dilution:WB 1:500-1:2000;IHC 1:50-1:300
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Application:WB;IHC
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Research Areas:Cell Biology;Signal transduction
Species Reactivity:Human;Mouse
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Target Synonym:JBTS4;Juvenile nephronophthisis 1 protein;Nephrocystin 1;nephronophthisis 1 (juvenile);Nephronophthisis;NPH1;NPHP1;SLSN1
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Buffer:PBS with 0.05% NaN3 and 40% Glycerol,pH7.4
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Conjugation:Unconjugated
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