Western Blot (WB)
(Western blot analysis of Nephrocystin 4 expression in A549 (A) whole cell lysates.)
Rabbit anti-Human Nephrocystin 4 Polyclonal Antibody | anti-NPHP4 antibody
Anti-Nephrocystin 4 Antibody
Western Blot (WB)
(Western blot analysis of Nephrocystin 4 expression in A549 (A) whole cell lysates.)
Western Blot (WB)
(Western blot analysis of Nephrocystin 4 expression in A549 (A) whole cell lysates.)
NCBI and Uniprot Product Information
NCBI Description
This gene encodes a protein involved in renal tubular development and function. This protein interacts with nephrocystin, and belongs to a multifunctional complex that is localized to actin- and microtubule-based structures. Mutations in this gene are associated with nephronophthisis type 4, a renal disease, and with Senior-Loken syndrome type 4, a combination of nephronophthisis and retinitis pigmentosa. [provided by RefSeq, Feb 2010]
Uniprot Description
NPHP4: Involved in the organization of apical junctions in kidney cells together with NPHP1 and RPGRIP1L/NPHP8. Does not seem to be strictly required for ciliogenesis. Defects in NPHP4 are the cause of nephronophthisis type 4 (NPHP4); also known as familial juvenile nephronophthisis 4. NPHP4 is an autosomal recessive inherited disease resulting in end-stage renal disease at age ranging between 6 and 35 years. It is a progressive tubulo-interstitial kidney disorder characterized by polydipsia, polyuria, anemia and growth retardation. The most prominent histological features are modifications of the tubules with thickening of the basement membrane, interstitial fibrosis and, in the advanced stages, medullary cysts. Ciliary dysfunction leads to a broad spectrum of disorders, collectively termed ciliopathies. Overlapping clinical features include retinal degeneration, renal cystic disease, skeletal abnormalities, fibrosis of various organ, and a complex range of anatomical and functional defects of the central and peripheral nervous system. The ciliopathy range of diseases includes Meckel-Gruber syndrome, Bardet-Biedl syndrome, Joubert syndrome, nephronophtisis, Senior-Loken syndrome, and Jeune asphyxiating thoracic dystrophy among others. Single-locus allelism is insufficient to explain the variable penetrance and expressivity of such disorders, leading to the suggestion that variations across multiple sites of the ciliary proteome, including NPHP4, influence the clinical outcome. Defects in NPHP4 are the cause of Senior-Loken syndrome type 4 (SLSN4). SLSN is a renal-retinal disorder characterized by progressive wasting of the filtering unit of the kidney, with or without medullary cystic renal disease, and progressive eye disease. Typically this disorder becomes apparent during the first year of life. Belongs to the NPHP4 family.
Protein type: Cytoskeletal
Chromosomal Location of Human Ortholog: 1p36
Cellular Component: centrosome; tight junction; membrane; intercellular junction; cytosol; photoreceptor connecting cilium
Molecular Function: protein binding; structural molecule activity
Biological Process: sperm motility; cell-cell adhesion; retina development in camera-type eye; organelle organization and biogenesis; photoreceptor cell maintenance; actin cytoskeleton organization and biogenesis; signal transduction; visual behavior
Disease: Nephronophthisis 4; Senior-loken Syndrome 4
Research Articles on NPHP4
Similar Products
Product Notes
The NPHP4 nphp4 (Catalog #AAA8307478) is an Antibody produced from Rabbit and is intended for research purposes only. The product is available for immediate purchase. The Anti-Nephrocystin 4 Antibody reacts with Human and may cross-react with other species as described in the data sheet. AAA Biotech's Nephrocystin 4 can be used in a range of immunoassay formats including, but not limited to, Western Blot (WB). WB: 1:500-1:2000. Researchers should empirically determine the suitability of the NPHP4 nphp4 for an application not listed in the data sheet. Researchers commonly develop new applications and it is an integral, important part of the investigative research process. It is sometimes possible for the material contained within the vial of "Nephrocystin 4, Polyclonal Antibody" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
All products in the AAA Biotech catalog are strictly for research-use only, and are absolutely not suitable for use in any sort of medical, therapeutic, prophylactic, in-vivo, or diagnostic capacity. By purchasing a product from AAA Biotech, you are explicitly certifying that said products will be properly tested and used in line with industry standard. AAA Biotech and its authorized distribution partners reserve the right to refuse to fulfill any order if we have any indication that a purchaser may be intending to use a product outside of our accepted criteria.Disclaimer
Though we do strive to guarantee the information represented in this datasheet, AAA Biotech cannot be held responsible for any oversights or imprecisions. AAA Biotech reserves the right to adjust any aspect of this datasheet at any time and without notice. It is the responsibility of the customer to inform AAA Biotech of any product performance issues observed or experienced within 30 days of receipt of said product. To see additional details on this or any of our other policies, please see our Terms & Conditions page.Item has been added to Shopping Cart
If you are ready to order, navigate to Shopping Cart and get ready to checkout.
