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Mouse Anti-NPHS1 Recombinant Antibody (3G2E1D9) (CBMAB-N3127-WJ)

This product is a Mouse antibody that recognizes NPHS1. The antibody 3G2E1D9 can be used for immunoassay techniques such as: ELISA, WB.
See all NPHS1 antibodies

Summary

Host Animal
Mouse
Specificity
Human
Clone
3G2E1D9
Antibody Isotype
IgG1
Application
ELISA, WB

Basic Information

Specificity
Human
Antibody Isotype
IgG1
Clonality
Monoclonal
Application Notes
The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

Formulations & Storage [For reference only, actual COA shall prevail!]

Format
Liquid
Buffer
PBS
Preservative
0.03% sodium azide
Storage
Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freeze/thaw cycles.

Target

Full Name
nephrosis 1, congenital, Finnish type (nephrin)
Introduction
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]
Entrez Gene ID
4868
UniProt ID
O60500
Alternative Names
NPHS1, Nephrin; Renal Glomerulus-Specific Cell Adhesion Receptor; Nephrosis 1, Congenital, Finnish Type (Nephrin); NPHN; Truncated NPHS1; Nephrin; CNF;
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 (By similarity).
Biological Process
Cell-cell adhesionManual Assertion Based On ExperimentIBA:GO_Central
Glomerular basement membrane developmentManual Assertion Based On ExperimentIEP:UniProtKB
Glomerular visceral epithelial cell developmentManual Assertion Based On ExperimentIEP:UniProtKB
JNK cascadeIEA:Ensembl
Myoblast fusionIEA:Ensembl
Positive regulation of actin filament polymerizationIEA:Ensembl
Protein localization to synapseManual Assertion Based On ExperimentIGI:UniProtKB
Skeletal muscle tissue developmentIEA:Ensembl
Slit diaphragm assemblyISS:UniProtKB
Cellular Location
Cell membrane
Predominantly located at podocyte slit diaphragm between podocyte foot processes. Also associated with podocyte apical plasma membrane.
Involvement in disease
Nephrotic syndrome 1 (NPHS1):
A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as 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.
Topology
Extracellular: 23-1055
Helical: 1056-1076
Cytoplasmic: 1077-1241
PTM
Phosphorylated at Tyr-1193 by FYN, leading to the recruitment and activation of phospholipase C-gamma-1/PLCG1.

Xie, D., Wu, J., Zhang, W., Jin, T., Wu, P., An, B., & Huang, S. (2023). A novel heterozygous mutation of the NPHS1 gene in a Chinese child with congenital nephrotic syndrome: A case report. Medicine, 102(7).

Espinosa, L. G., Santoveña, A. Z., Blanco, J. N., Alvariño, M. G., Feito, J. B., & Hijosa, M. M. (2022). Spontaneous remission in a child with an NPHS1-based congenital nephrotic syndrome. Clinical Kidney Journal, 15(10), 1969-1970.

Thomas, M. M., Ahmed, H. M., El-Dessouky, S. H., Ramadan, A., Botrous, O. E., & Abdel-Hamid, M. S. (2022). Spectrum of NPHS1 and NPHS2 variants in egyptian children with focal segmental glomerular sclerosis: identification of six novel variants and founder effect. Molecular Genetics and Genomics, 297(3), 689-698.

Khaliq, O. P., Konoshita, T., Moodley, J., & Naicker, T. (2021). The association of NPHS1 and ACNT4 gene polymorphisms with pre-eclampsia. European Journal of Obstetrics & Gynecology and Reproductive Biology, 266, 9-14.

Rong, L., Chen, L., Rao, J., Shen, Q., Li, G., Liu, J., ... & Xu, H. (2021). Genetic Variations and Clinical Features of NPHS1-Related Nephrotic Syndrome in Chinese Children: A Multicenter, Retrospective Study. Frontiers in Medicine, 8, 771227.

Jia, X., Yamamura, T., Gbadegesin, R., McNulty, M. T., Song, K., Hitomi, Y., ... & Weaver, D. J. (2020). Common risk variants in NPHS1 and TNFSF15 are associated with childhood steroid-sensitive nephrotic syndrome. Kidney international, 98(5), 1308-1322.

Amr, K., El-Bassyouni, H. T., Rabie, E., Selim, A., Zaki, M. E., Abd Alazem, E. A., ... & Salah, D. M. (2020). A descriptive study of NPHS1 and NPHS2 mutations in children with congenital nephrotic syndrome. Gene Reports, 20, 100722.

Zhuo, L., Huang, L., Yang, Z., Li, G., & Wang, L. (2019). A comprehensive analysis of NPHS1 gene mutations in patients with sporadic focal segmental glomerulosclerosis. BMC medical genetics, 20, 1-8.

Thi Kim Lien, N., Van Dem, P., Thu Huong, N., Minh Dien, T., Thi Thu Thuy, T., Van Tung, N., ... & Thi Quynh Huong, N. (2019). The role of p. Ser1105Ser (in NPHS1 gene) and p. Arg548Leu (in PLCE1 gene) with disease status of Vietnamese patients with congenital nephrotic syndrome: benign or pathogenic?. Medicina, 55(4), 102.

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For research use only. Not intended for any clinical use.

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