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Rabbit anti-Human NPHP1 Monoclonal Antibody

Cat NoBMA-2494
Conjugate
Type重组兔多抗
SourceRabbit
Size50 uL
ApplicationWB
FormatLiquid
ConcentrationPlease refer to the vial lable for the specific concentration.
BufferSupplied in PBS with 0.02% sodium azide,50% glycerol,pH7.3.
SpeciesHuman
StorageStore at -20℃. Avoid freeze / thaw cycles.
SynonymsNPHP1;JBTS4;NPH1;SLSN1
PurificationAffinity purification
MolecularWeight83kDa
Description
BackgroundThis 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.
We can offer labeled proteins/antibodies using a broad range of intensely fluorescent dyes and labels including FITC, Biotin, Alexa Fluor, Rhodamine B, Cy, Co-Au.