NPHP1 Matched Antibody Pair (813) (APMAB-813LY)

Name: NPHP1 Matched Antibody Pair (813)
SKU: APMAB-813LY
Rating: 5 (1 reviews)

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Datasheet

SDS

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Datasheet References Q & As Review & reward Protocols Associated Products

Specifications

ApplIcation

Sandwich ELISA

Specificity

Human

Capture Antibody

Rabbit anti-NPHP1 polyclonal antibody, 100 ug

Detection Antibody

Anti-NPHP1 Mouse polyclonal antibody, 20 ug

Dilutions

10 ng/ml-100 ng/ml

Format

Liquid

Storage

Aliquot and store at -20°Cor -80°C. Avoid freeze-thaw cycles.

Introduction

This gene encodes a protein with src homology domain 3 (SH3) patterns. This protein interacts with Crk-associated substrate, and it appears to function in the control of cell division, as well as in cell-cell and cell-matrix adhesion signaling, likely as part of a multifunctional complex localized in actin- and microtubule-based structures. Mutations in this gene cause familial juvenile nephronophthisis type 1, a kidney disorder involving both tubules and glomeruli. Defects in this gene are also associated with Senior-Loken syndrome type 1, also referred to as juvenile nephronophthisis with Leber amaurosis, which is characterized by kidney and eye disease, and with Joubert syndrome type 4, which is characterized by cerebellar ataxia, oculomotor apraxia, psychomotor delay and neonatal breathing abnormalities, sometimes including retinal dystrophy and renal disease. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Alternative Names

Nephrocystin 1; Juvenile Nephronophthisis 1 Protein; Nephronophthisis 1 (Juvenile); NPH1; Nephrocystin-1; JBTS4; SLSN1;

Entrez Gene ID

4867

UniProt ID

O15259

More Infomation

Deutsch, K., Klämbt, V., Kitzler, T. M., Jobst-Schwan, T., Schneider, R., Buerger, F., ... & Hildebrandt, F. (2023). Exome sequencing identifies a likely causative variant in 53% of families with ciliopathy-related features on renal ultrasound after excluding NPHP1 deletions. Genes & Diseases, 101111.

Reddy, S., Simmers, R., Shah, A., & Couser, N. (2023). NPHP1‐Related ciliopathies: A new case and major review of the ophthalmic manifestations of 147 reported cases. Clinical Case Reports, 11(9).

Leggatt, G., Cheng, G., Narain, S., Briseño-Roa, L., Annereau, J. P., Gast, C., ... & Ennis, S. (2023). A genotype-to-phenotype approach suggests under-reporting of single nucleotide variants in nephrocystin-1 (NPHP1) related disease (UK 100,000 Genomes Project). Scientific Reports, 13(1), 9369.

Chen, T., Wang, L., Chen, C., Li, R., Zhu, N., Liu, R., ... & Tu, K. (2023). HIF-1α-activated TMEM237 promotes hepatocellular carcinoma progression via the NPHP1/Pyk2/ERK pathway. Cellular and Molecular Life Sciences, 80(5), 120.

Li, D., Hu, M., Chen, H., Wu, X., Wei, X., Lin, H., ... & Sun, L. (2022). An Nphp1 knockout mouse model targeting exon 2–20 demonstrates characteristic phenotypes of human nephronophthisis. Human Molecular Genetics, 31(2), 232-243.

Birtel, J., Spital, G., Book, M., Habbig, S., Baeumner, S., Riehmer, V., ... & Issa, P. C. (2021). NPHP1 gene-associated nephronophthisis is associated with an occult retinopathy. Kidney International, 100(5), 1092-1100.

Ning, K., Song, E., Sendayen, B. E., Prosseda, P. P., Chang, K. C., Ghaffarieh, A., ... & Sun, Y. (2021). Defective INPP5E distribution in NPHP1‐related Senior–Loken syndrome. Molecular Genetics & Genomic Medicine, 9(1), e1566.

Datta, P., Cribbs, J. T., & Seo, S. (2021). Differential requirement of NPHP1 for compartmentalized protein localization during photoreceptor outer segment development and maintenance. PloS one, 16(5), e0246358.

Wu, X., Wang, H., Chen, H., Lin, H., Li, M., Yue, Z., & Sun, L. (2021). Overexpression of smad7 inhibits the TGF-β/Smad signaling pathway and EMT in NPHP1-defective MDCK cells. Biochemical and Biophysical Research Communications, 582, 57-63.

Akira, M., Suzuki, H., Ikeda, A., Iwasaki, M., Honda, D., Takahara, H., ... & Suzuki, Y. (2021). Atypical histological abnormalities in an adult patient with nephronophthisis harboring NPHP1 deletion: a case report. BMC nephrology, 22(1), 1-5.

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Please try the standard protocols which include: protocols, troubleshooting and guide.

Enzyme-linked Immunosorbent Assay (ELISA)
Flow Cytometry
Immunofluorescence (IF)
Immunohistochemistry (IHC)
Immunoprecipitation (IP)
Western Blot (WB)
Enzyme Linked Immunospot (ELISpot)
Proteogenomic
Other Protocols

Isotype control

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

Custom Antibody Labeling

We also offer labeled antibodies developed using our catalog antibody products and nonfluorescent conjugates (HRP, AP, Biotin, etc.) or fluorescent conjugates (Alexa Fluor, FITC, TRITC, Rhodamine, Texas Red, R-PE, APC, Qdot Probes, Pacific Dyes, etc.).

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