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Mouse Anti-NPHS1 Recombinant Antibody (3D2) (CBMAB-A6073-LY)

The product is antibody recognizes NPHS1. The antibody 3D2 immunoassay techniques such as: WB, ELISA.
See all NPHS1 antibodies

Summary

Host Animal
Mouse
Specificity
Human
Clone
3D2
Antibody Isotype
IgG1, κ
Application
WB, ELISA

Basic Information

Immunogen
NPHS1 (NP_004637.1, 33 a.a. ~ 122 a.a) partial recombinant protein with GST tag. MW of the GST tag alone is 26 KDa.
Specificity
Human
Antibody Isotype
IgG1, κ
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
Purity
> 95% Purity determined by SDS-PAGE.
Storage
Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freezethaw cycles.

Target

Full Name
nephrosis 1, congenital, Finnish type (nephrin)
Introduction
Nephrin is a kidney glomerular filtration barrier protein that is an essential component of the interpodocyte-spanning slit diaphragm. Mutations in the nephrin gene are associated with congenital nephrotic syndrome (NPHS1; MIM 256300).[supplied by OMIM
Entrez Gene ID
4868
UniProt ID
O60500
Alternative Names
CNF; NPHN
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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