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Rabbit Polyclonal Antibody to NPHP1
货号: P03231
别名: NPH1; JBTS4; SLSN1
应用: WB,IHC
反应种属: Human, Mouse
抗体类型: Primary antibody
Swissprot: O15259
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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.

Specification

Aliases NPH1; JBTS4; SLSN1
Swissprot O15259
WB Predicted band size 83 kDa
Host/Isotype Rabbit IgG
Antibody Type Primary antibody
Storage Store at 4°C short term. Aliquot and store at -20°C long term. Avoid freeze/thaw cycles.
Species Reactivity Human, Mouse
Immunogen Fusion protein of human NPHP1
Formulation Purified antibody in PBS with 0.05% sodium azide and 50% glycerol.

Application

WB 1/500-1/2000
IHC 1/50-1/300
ELISA 1/5000-1/10000
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