NPHP4蛋白抗体
规格：1mg/1ml
英文名： Nephrocystin 4
别名： KIAA0673; Nephrocystin-4; nephronophthisis 4; Nephroretinin; NPHP4; NPHP4_HUMAN; POC10; POC10 centriolar protein homolog; SLSN4.
分子量： 157kDa
储存液：0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glyce
克隆类型：Polyclonal
亚型：IgG
纯化方法：affinity purified by Protein A
**原：KLH conjugated synthetic peptide derived from human Nephrocy
交叉反应：Human, Mouse, Rat, Sheep, Macaque Monkey, Gorilla, Orangutan
细胞定位：细胞浆
NPHP4蛋白抗体产品介绍：background: This gene encodes a protein involved in renal tubular development and function. This protein interacts with nephrocystin, and belongs to a multifunctional complex that is localized to actin- and microtubule-based structures. Mutations in this gene are associated with nephronophthisis type 4, a renal disease, and with Senior-Loken syndrome type 4, a combination of nephronophthisis and retinitis pigmentosa. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014] Function: Involved in the organization of apical junctions in kidney cells together with NPHP1 and RPGRIP1L/NPHP8. Does not seem to be strictly required for ciliogenesis. Subcellular Location: Cytoplasm > cytoskeleton > cilium basal body. Cytoplasm > cytoskeleton > centrosome. Tissue Specificity: Expressed in kidney, skeletal muscle, heart and liver, and to a lesser extent in brain and lung. DISEASE: Defects in NPHP4 are the cause of nephronophthisis type 4 (NPHP4) NPHP4蛋白抗体[MIM:606966]; also known as familial juvenile nephronophthisis 4. NPHP4 is an autosomal recessive inherited disease resulting in end-stage renal disease at age ranging between 6 and 35 years. It is a progressive tubulo-interstitial kidney disorder characterized by polydipsia, polyuria, anemia and growth retardation. The most prominent histological features are modifications of the tubules with thickening of the basement membrane, interstitial fibrosis and, in the advanced stages, medullary cysts. Defects in NPHP4 are the cause of Senior-Loken syndrome type 4 (SLSN4) [MIM:606996]. SLSN is a renal-retinal disorder characterized by progressive wasting of the filtering unit of the kidney, with or without medullary cystic renal diseaseNPHP4蛋白抗体, and progressive eye disease. Typically this disorder becomes apparent during the first year of life. Similarity: Belongs to the NPHP4 family. Gene ID: 261734 Database links: Entrez Gene: 261734 Human Omim: 607215 Human SwissProt: O75161 Human Unigene: 462348 Human Important Note: This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
NPHP4蛋白抗体产品应用：WB=1:100-500 ELISA=1:500-1000 IHC-P=1:100-500 IHC-F=1:100-500 ICC=1:100-500 IF=1:100-500 （石蜡切片需做抗原修复） not yet tested in other applications. optimal dilutions/concentrations should be determined by the end user.
研究领域：细胞生物 **学 信号转导
储存条件： Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
来源： Rabbit
外观： Lyophilized or Liquid