肾小球细胞粘附分子受体抗体
规格：1mg/1ml
英文名： Nephrin
别名： CNF; NPHN; Nephrosis 1 congenital Finnish type; NPHS 1; NPHS1; Renal glomerulus specific cell adhesion receptor; Renal glomerulus-specific cell adhesion receptor; NPHN_HUMAN .
分子量： 138kDa
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 Nephrin
交叉反应：Human, Mouse, Rat,
肾小球细胞粘附分子受体抗体细胞定位：细胞浆 细胞膜
产品介绍：background: This gene encodes a member of the immunoglobulin family of cell adhesion molecules that functions in the glomerular filtration barrier in the kidney. The gene is primarily expressed in renal tissues, and the protein is a type-1 transmembrane protein found at the slit diaphragm of glomerular podocytes. The slit diaphragm is thought to function as an ultrafilter to exclude albumin and other plasma macromolecules in the formation of urine. Mutations in this gene result in Finnish-type congenital nephrosis 1, characterized by severe proteinuria and loss of the slit diaphragm and foot processes.[provided by RefSeq, Oct 2009] Function: Seems to play a role in the development or function of the kidney glomerular filtration barrier. Regulates glomerular vascular permeability. May anchor the podocyte slit diaphragm to the actin cytoskeleton. Plays a role in skeletal muscle formation through regulation of myoblast fusion. Subunit: Interacts with CD2AP (via C-terminal domain). Interacts with MAGI1 (via PDZ 2 and 3 domains) forming a tripartite complex with IGSF5/JAM4. Interacts with DDN; the interaction is direct. Self-associates (via the Ig-like domains). Also interacts (via the Ig-like domains) with KIRREL/NEPH1 and KIRREL2; the interaction with KIRREL is dependent on KIRREL glycosylation. Forms a complex with ACTN4, CASK, IQGAP1, MAGI2, SPTAN1 and SPTBN1 (By similarity). Interacts with NPHS2. Subcellular Location: Cell membrane; Single-pass type I membrane protein (Potential). Note=Predominantly located at podocyte slit diaphragm between podocyte foot processes. Also associated with podocyte apical plasma membrane. Tissue Specificity: Specifically expressed in podocytes of kidney glomeruli. Expressed in kidney glomeruli. I肾小球细胞粘附分子受体抗体n the embryo,expressed in the mesonephric kidney at E11 with strong expression in cranial tubules with podocyte-like structures. Expression is observed in the podocytes of the developing kidney from E13. High expression is also detected in the developing cerebellum, hindbrain, spinal cord, retina and hypothalamus. Expressed in skeletal muscle during myoblast fusion such as in the ***** following acute injury and in the embryo but not detected in uninjured ***** skeletal muscle. Isoform 1 and isoform 2 are expressed in the newborn brain and developing cerebellum. Isoform 1 is the predominant isoform in ***** kidney. Post-translational modifications: Phosphorylated at Tyr-1193 by FYN, leading to the recruitment and activation of phospholipase C-gamma-1/PLCG1. DISEASE: Defects in NPHS1 are the cause of nephrotic syndrome type 1 (NPHS1) [MIM:256300]; also肾小球细胞粘附分子受体抗体 known as Finnish congenital nephrosis (CNF). A renal disease characterized clinically by proteinuria, hypoalbuminemia, hyperlipidemia, and edema. Kidney biopsies show non-specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. Some affected individuals have an inherited steroid-resistant form and progress to end-stage renal failure. Similarity: Belongs to the immunoglobulin superfamily. Contains 1 fibronectin type-III domain. Contains 8 Ig-like C2-type (immunoglobulin-like) domains. Gene ID: 4868 Database links: Entrez Gene: 4868 Human Entrez Gene: 54631 Mouse Entrez Gene: 64563 Rat Omim: 602716 Human SwissProt: O60500 Human SwissProt: Q9QZS7 Mouse SwissProt: Q9R044 Rat Unigene: 122186 Human Unigene: 437830 Mouse Unigene: 48745 Rat Important Note: This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
肾小球细胞粘附分子受体抗体产品应用：IHC-P=1:100-500 IHC-F=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：信号转导 细胞骨架
储存条件： Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
来源： Rabbit
外观： Lyophilized or Liquid