产品详情
产品名称NPHP1 antibody
来源种属Rabbit
克隆性Polyclonal
亚型IgG
纯化Affinity purification
应用WB,IHC,IF
种属反应性Human,Mouse,Rat
特异性The antibody detects endogenous level of total NPHP1 protein.
免疫原类型Recombinant Protein
免疫原描述Recombinant fusion protein of human NPHP1 (NP_001121651.1).
基因/蛋白名称NPHP1
别名NPHP1;JBTS4;NPH1;SLSN1
数据库入口号Uniprot:O15259
GeneID:4867
UniprotO15259
Gene ID4867
实际分子量83KDa
浓度1.0mg/ml
配方PBS with 0.02% sodium azide,50% glycerol,pH7.3.
保存Store at -20˚C. Avoid freeze / thaw cycles.
应用详情
WB 1:500 - 1:2000
IHC 1:50 - 1:200
IF 1:50 - 1:200
Western blot analysis of extracts of Mouse pancreas, using NPHP1 antibody.
Western blot analysis of extracts of various cell lines, using NPHP1 antibody.
Immunohistochemistry of paraffin-embedded rat kidney using NPHP1 Rabbit pAb.
Immunohistochemistry of paraffin-embedded rat testis using NPHP1 Rabbit pAb.
背景
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.