Rabbit anti-Human WDR19 Polyclonal Antibody | anti-WDR19 antibody
WDR19 Antibody
NCBI and Uniprot Product Information
Uniprot Description
WDR19: May be involved in cilia function and/or assembly. Defects in WDR19 are the cause of cranioectodermal dysplasia type 4 (CED4). CED4 is a disorder primarily characterized by craniofacial, skeletal and ectodermal abnormalities. Clinical features include craniosynostosis, narrow rib cage, short limbs, brachydactyly, hypoplastic and widely spaced teeth, sparse hair, skin laxity and abnormal nails. Nephronophthisis leading to progressive renal failure, hepatic fibrosis, heart defects, and retinitis pigmentosa have also been described. Defects in WDR19 are the cause of asphyxiating thoracic dystrophy type 5 (ATD5). ATD5 is an autosomal recessive chondrodysplasia characterized by a severely constricted thoracic cage, short-limbed short stature, and polydactyly. It often leads to death in infancy because of respiratory insufficiency. Retinal degeneration, cystic renal disease and hepatic disease can be present in affected individuals who survive early childhood. Defects in WDR19 are the cause of nephronophthisis type 13 (NPHP13). NPHP13 is an autosomal recessive disorder resulting in end-stage renal disease. It is a progressive tubulo-interstitial kidney disorder histologically characterized by modifications of the tubules with thickening of the basement membrane, interstitial fibrosis and, in the advanced stages, medullary cysts. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Unknown function
Chromosomal Location of Human Ortholog: 4p14
Cellular Component: cilium; nucleoplasm; photoreceptor connecting cilium
Disease: Cranioectodermal Dysplasia 4; Senior-loken Syndrome 8; Short-rib Thoracic Dysplasia 5 With Or Without Polydactyly
Similar Products
Product Notes
The WDR19 wdr19 (Catalog #AAA9415604) is an Antibody produced from Rabbit and is intended for research purposes only. The product is available for immediate purchase. The WDR19 Antibody reacts with Human and may cross-react with other species as described in the data sheet. AAA Biotech's WDR19 can be used in a range of immunoassay formats including, but not limited to, Immunohistochemistry (IHC). Immunohistochemistry: 1:25-1:100. Researchers should empirically determine the suitability of the WDR19 wdr19 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 "WDR19, 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.