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Rabbit Polyclonal Antibody to NPHP1

CAT: 1725-P03231-01Size: 50 µLDry Ice: NoHazardous: No
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CAT#:1725-P03231-01Size:50 µL
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24/48H Stock Items & 2 to 6 Weeks non Stock Items.
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Description
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.
Product Name Alternative
NPH1; JBTS4; SLSN1
Swiss Prot
O15259
Host
Rabbit
Reactivity
Human, Mouse
Immunogen
Fusion protein of human NPHP1
Clonality
Polyclonal
Applications
WB, IHC
Storage Conditions
Store at 4°C short term. Aliquot and store at -20°C long term. Avoid freeze/thaw cycles.
Formulation
Purified antibody in PBS with 0.05% sodium azide and 50% glycerol.
Antibody Type
Primary antibody
Protein Name
NPHP1
Bands Size
83 kDa

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MBS9512824-01NPHP1 Rabbit Polyclonal Antibody
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