Rabbit anti-Human PKHD1 Polyclonal Antibody | anti-PKHD1 antibody
PKHD1 (Polycystic Kidney and Hepatic Disease 1, ARPKD, DKFZp686C01112, Fibrocystin, FCYT, FLJ46150, Polyductin, Tigmin, TIGM1)
Purified by peptide immunoaffinity chromatography.
Purified by peptide immunoaffinity chromatography.
NCBI and Uniprot Product Information
NCBI Description
The protein encoded by this gene is predicted to have a single transmembrane (TM)-spanning domain and multiple copies of an immunoglobulin-like plexin-transcription-factor domain. Alternative splicing results in two transcript variants encoding different isoforms. Other alternatively spliced transcripts have been described, but the full length sequences have not been determined. Several of these transcripts are predicted to encode truncated products which lack the TM and may be secreted. Mutations in this gene cause autosomal recessive polycystic kidney disease, also known as polycystic kidney and hepatic disease-1. [provided by RefSeq]
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
Research Articles on PKHD1
2. the presence of two truncating mutations of the PKHD1 gene is associated with the most severe renal forms of prenatally detected autosomal recessive polycystic kidney disease
3. Data suggest that fibrocystin-1 is a component of the normal focal adhesion complex and that actin and fibrocystin-1 are lost from autosomal recessive polycystic kidney disease complexes.
4. PKHD1 sequencing results on 78 ARPKD/CHF patients from 68 families, is reported.
5. FC1-depletion induced reduction in ERK1/2 kinase activation and activation of NF-kappaB.
6. Observational study of gene-disease association. (HuGE Navigator)
7. These observations should provide an important platform for determining FPC function and the pathogenesis of autosomal recessive polycystic kidney disease.
8. These results represent the first systematic study of polyductin expression in human pathologies associated with abnormal development of intrahepatic biliary tree.
9. Pseudoexon activation in the PKHD1 gene: a French founder intronic mutation IVS46+653A>G causing severe autosomal recessive polycystic kidney disease.
10. polycystin-1, polycystin-2, and fibrocystin are shed in membrane particles in the urine, and these particles interact with primary cilia
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Product Notes
The PKHD1 pkhd1 (Catalog #AAA614480) is an Antibody produced from Rabbit and is intended for research purposes only. The product is available for immediate purchase. The PKHD1 (Polycystic Kidney and Hepatic Disease 1, ARPKD, DKFZp686C01112, Fibrocystin, FCYT, FLJ46150, Polyductin, Tigmin, TIGM1) reacts with Human and may cross-react with other species as described in the data sheet. AAA Biotech's PKHD1 can be used in a range of immunoassay formats including, but not limited to, ELISA (EL/EIA). Suitable for use in ELISA. Researchers should empirically determine the suitability of the PKHD1 pkhd1 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 "PKHD1, 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
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