PKHD1 blocking peptide
PKHD1 Antibody
NCBI and Uniprot Product Information
Uniprot Description
PKHD1: May be required for correct bipolar cell division through the regulation of centrosome duplication and mitotic spindle assembly. May be a receptor protein that acts in collecting-duct and biliary differentiation. Defects in PKHD1 are the cause of polycystic kidney disease autosomal recessive (ARPKD). ARPKD is a severe form of polycystic kidney disease affecting the kidneys and the hepatic biliary tract. The clinical spectrum is widely variable, with most cases presenting during infancy. The fetal phenotypic features classically include enlarged and echogenic kidneys, as well as oligohydramnios secondary to a poor urine output. Up to 50% of the affected neonates die shortly after birth, as a result of severe pulmonary hypoplasia and secondary respiratory insufficiency. In the subset that survives the perinatal period, morbidity and mortality are mainly related to severe systemic hypertension, renal insufficiency, and portal hypertension due to portal-tract fibrosis. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Cell surface; Membrane protein, integral
Chromosomal Location of Human Ortholog: 6p12.2
Cellular Component: anchored to external side of plasma membrane; centrosome; perinuclear region of cytoplasm; cytoplasm; apical plasma membrane; integral to membrane
Molecular Function: protein binding; receptor activity
Biological Process: cellular calcium ion homeostasis; cell-cell adhesion; negative regulation of protein kinase B signaling cascade; homeostatic process; inhibition of NF-kappaB transcription factor; positive regulation of cell proliferation; cilium biogenesis; negative regulation of cell motility; kidney development; negative regulation of apoptosis; regulation of TOR signaling pathway
Disease: Polycystic Kidney Disease, Autosomal Recessive
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Product Notes
The PKHD1 pkhd1 (Catalog #AAA9632825) is a Blocking Peptide and is intended for research purposes only. The product is available for immediate purchase. It is sometimes possible for the material contained within the vial of "PKHD1, Blocking Peptide" 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
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