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NPHP1 Polyclonal Antibody

CAT: 1027-RA21180-01Size: 50 µLDry Ice: NoHazardous: No
CAT#:1027-RA21180-01Size:50 µL
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AVAILABILITY: InStock
24/48H Stock Items & 2 to 6 Weeks non Stock Items.
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Background
Nephrocystin 1 (NPHP1) Homo sapiens 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 diffe
Gene ID
4867
Swiss Prot
O15259
Cross Reactivity
Human; Mouse
Clonality
Polyclonal
Source
Rabbit
Applications
WB; ELISA
Dilution
WB 1:500-2000 ELISA 1:5000-20000
Buffer
Liquid in PBS containing 50% glycerol, and 0.02% sodium azide.
Molecular Weight
80
Storage Conditions
-20°C/1 year
Protein Weight
80

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