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Mouse Anti-NPHP3 Recombinant Antibody (3B1) (CBMAB-A6072-LY)

The product is antibody recognizes NPHP3. The antibody 3B1 immunoassay techniques such as: WB, ELISA.
See all NPHP3 antibodies

Summary

Host Animal
Mouse
Specificity
Human
Clone
3B1
Antibody Isotype
IgG1, κ
Application
WB, ELISA

Basic Information

Immunogen
NPHP3 (NP_694972.3, 106 a.a. ~ 205 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
nephronophthisis 3 (adolescent)
Introduction
This gene encodes a protein containing a coiled-coil (CC) domain, a tubulin-tyrosine ligase (TTL) domain, and a tetratrico peptide repeat (TPR) domain. The encoded protein interacts with nephrocystin and may function in renal tubular development and function. Mutations in this gene are associated with nephronophthisis type 3. Multiple splice variants have been described but their full-length nature has not been determined. [provided by RefSeq]
Entrez Gene ID
27031
UniProt ID
Q7Z494
Alternative Names
DKFZp667K242; DKFZp781K1312; FLJ30691; FLJ36696; KIAA2000; MGC78666; NPH3
Function
Required for normal ciliary development and function. Inhibits disheveled-1-induced canonical Wnt-signaling activity and may also play a role in the control of non-canonical Wnt signaling which regulates planar cell polarity. Probably acts as a molecular switch between different Wnt signaling pathways. Required for proper convergent extension cell movements.
Biological Process
Atrial septum developmentManual Assertion Based On ExperimentIMP:BHF-UCL
Cilium assemblyISS:UniProtKB
Convergent extension involved in gastrulationManual Assertion Based On ExperimentIGI:BHF-UCL
Determination of intestine left/right asymmetryManual Assertion Based On ExperimentIMP:BHF-UCL
Determination of left/right symmetryManual Assertion Based On ExperimentIMP:BHF-UCL
Determination of liver left/right asymmetryManual Assertion Based On ExperimentIMP:BHF-UCL
Determination of pancreatic left/right asymmetryManual Assertion Based On ExperimentIMP:BHF-UCL
Determination of stomach left/right asymmetryManual Assertion Based On ExperimentIMP:BHF-UCL
Epithelial cilium movement involved in determination of left/right asymmetryIC:BHF-UCL
Heart loopingManual Assertion Based On ExperimentIMP:BHF-UCL
Kidney developmentManual Assertion Based On ExperimentIMP:BHF-UCL
Kidney morphogenesisManual Assertion Based On ExperimentIMP:BHF-UCL
Lung developmentManual Assertion Based On ExperimentIMP:BHF-UCL
Maintenance of animal organ identityManual Assertion Based On ExperimentIMP:HGNC-UCL
Negative regulation of canonical Wnt signaling pathwayManual Assertion Based On ExperimentIDA:UniProtKB
Photoreceptor cell maintenanceManual Assertion Based On ExperimentIMP:HGNC-UCL
Regulation of planar cell polarity pathway involved in neural tube closure1 PublicationIC:BHF-UCL
Regulation of Wnt signaling pathway, planar cell polarity pathwayISS:UniProtKB
Ureter developmentManual Assertion Based On ExperimentIMP:BHF-UCL
Wnt signaling pathwayIEA:UniProtKB-KW
Cellular Location
Cell projection, cilium
Localization to cilium is mediated via interaction with UNC119 and UNC119B, which bind to the myristoyl moiety of the N-terminus.
Involvement in disease
Nephronophthisis 3 (NPHP3):
An autosomal recessive disorder resulting in end-stage renal disease. It is characterized by polyuria, polydipsia, anemia. Onset of terminal renal failure occurr significantly later (median age, 19 years) than in juvenile nephronophthisis. Renal pathology is characterized by alterations of tubular basement membranes, tubular atrophy and dilation, sclerosing tubulointerstitial nephropathy, and renal cyst development predominantly at the corticomedullary junction.
Renal-hepatic-pancreatic dysplasia 1 (RHPD1):
A disease characterized by cystic malformations of the kidneys, liver, and pancreas. The pathological findings consist of multicystic dysplastic kidneys, dilated and dysgenetic bile ducts, a dysplastic pancreas with dilated ducts, cysts, fibrosis and inflammatory infiltrates.
Meckel syndrome 7 (MKS7):
A disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly.

Zhang, X., Zhi, X., Wang, X., Dong, Y., Shu, J., Wang, W., & Cai, C. (2023). Identification of a splicing variant c. 3813-3A> G in NPHP3 by reanalysis of whole exome sequencing in a Chinese boy with nephronophthisis. Nephron, 1-10.

Wang, J., Li, S., Jiang, Y., Wang, Y., Ouyang, J., Yi, Z., ... & Zhang, Q. (2023). Pathogenic Variants in CEP290 or IQCB1 Cause Earlier-Onset Retinopathy in Senior-Loken Syndrome Compared to Those in INVS, NPHP3, or NPHP4. American Journal of Ophthalmology, 252, 188-204.

Sibikova, M., Fencl, F., David, J., Vondrak, K., Simankova, N., Balascakova, M., ... & Lebl, J. (2023). NPHP3-Related Disease: A Possible Risk Factor for Developing Encapsulating Peritoneal Sclerosis. Klinische Pädiatrie.

Zhu, H., Zhao, Z. H., Zhu, S. Y., Xiong, F., He, L. H., Zhang, Y., & Wang, J. (2022). Renal–hepatic–pancreatic dysplasia-1 with a novel NPHP3 genotype: a case report and review of the literature. BMC pediatrics, 22(1), 603.

Chen, X., Yuan, L., Zhou, J., Wang, F., Zhang, Y., Ma, X., ... & Liu, H. (2022). Sustained remission after ruxolitinib and chimeric antigen receptor T-cell therapy bridged to a second allogeneic hematopoietic stem cell transplantation for relapsed Philadelphia chromosome-like B-cell precursor acute lymphoblastic leukemia with novel NPHP3-JAK2 fusion. Genes, chromosomes & cancer, 61(1), 55-58.

Ijaz, A., Alfadhli, F., Alharbi, A., Khan, Y. N., Alhawas, Y. K., Hashmi, J. A., ... & Basit, S. (2022). NPHP3 splice acceptor site variant is associated with infantile nephronophthisis and asphyxiating thoracic dystrophy; A rare combination. European Journal of Medical Genetics, 65(10), 104578.

Olinger, E., Alawi, I. A., Al Riyami, M. S., Salmi, I. A., Molinari, E., Faqeih, E. A., ... & Sayer, J. A. (2021). A discarded synonymous variant in NPHP3 explains nephronophthisis and congenital hepatic fibrosis in several families. Human Mutation, 42(10), 1221-1228.

Zhao, Z., Liu, G., Zhang, H., Ruan, P., Ge, J., & Liu, Q. (2021). BIRC5, GAJ5, and lncRNA NPHP3-AS1 are correlated with the development of atrial fibrillation-valvular heart disease. International Heart Journal, 62(1), 153-161.

Appak, Y. C., Baran, M., Hismi, B. O., Ozyilmaz, B., Vardi, K., Kaya, O. O., ... & Demir, B. K. (2020). Renal–Hepatic–Pancreatic Dysplasia: An Ultra-Rare Ciliopathy with a Novel NPHP3 Genotype. Journal of Pediatric Genetics, 9(02), 101-103.

Baran, M., Ozyilmaz, B., Vardi, K., & Aksoy, B. (2019). Renal-Hepatic-Pancreatic Dysplasia: An Ultra-Rare Ciliopathy with a Novel NPHP3 Genotype. Journal of Pediatric Genetics, 9(2), 101-103.

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

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