Anti-Nephronophthisis antibody
英文名称 | Nephronophthisis |
中文名称 | 肾囊肿蛋白1抗体 |
别 名 | JBTS4; Juvenile nephronophthisis 1 protein; Nephrocystin 1; nephronophthisis 1 (juvenile); NPH1; NPHP1; SLSN1. |
DATASHEET
Host:Rabbit
Target Protein:Nephronophthisis
IR:Immunogen Range:421-520/732
Clonality:Polyclonal
Isotype:IgG
Entrez Gene:4867
Swiss Prot:O15259
Source:KLH conjugated synthetic peptide derived from human Nephronophthisis:421-520/732
Purification:affinity purified by Protein A
Storage:0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol. Shipped at 4℃. Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
Background: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. [provided by RefSeq, Jul 2008]
Size:100ul
Concentration:1mg/ml
Applications:WB(1:500-2000)
ELISA(1:5000-10000)
Cross Reactive Species:Human
Mouse
Rat
Chicken
Dog
Pig
Cow
Horse
Rabbit
Zebrafish
Guinea Pig
Cat
.
For research use only. Not intended for diagnostic or therapeutic use.
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