anti-Polycystic Kidney and Hepatic Disease 1 Protein (PKHD1) Antibodies

The protein encoded by PKHD1 is predicted to have a single transmembrane (TM)-spanning domain and multiple copies of an immunoglobulin-like plexin-transcription-factor domain. Additionally we are shipping and many more products for this protein.

list all antibodies Gene Name GeneID UniProt
PKHD1 5314 P08F94
PKHD1 241035  
Anti-Rat PKHD1 PKHD1 301287  
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Top anti-PKHD1 Antibodies at antibodies-online.com

Showing 10 out of 27 products:

Catalog No. Reactivity Host Conjugate Application Images Quantity Delivery Price Details
Human Rat Un-conjugated Fig. 1. Black line: Control Antigen (100 ng) Fig. 2. Flow cytometric analysis of Hela cells using PKHD1 Rat mAb (green) and negative control (red).Figure 2:Immunofluorescence analysis of A431 cells using PKHD1 Rat mAb (green). Blue: DRAQ5 fluorescent DNA dye. Red: Actin filaments have been labeled with Alexa Fluor- 555 phalloidin. 100 μg 11 to 16 Days
$469.05
Details
Human Mouse Un-conjugated ELISA, FACS, ICC, IHC Black line: Control Antigen (100 ng); Purple line: Antigen(10ng); Blue line: Antigen (50 ng); Red line: Antigen (100 ng); Western blot analysis using PKHD1 mAb against mouse PKHD1(AA: 3878-4060) recombinant protein. (Expected MW is 23 kDa) 0.1 mg 3 to 4 Days
$430.10
Details
Human Rabbit Un-conjugated IHC (p) Immunohistochemical staining of human liver with PKHD1 polyclonal antibody  shows strong cytoplasmic positivity in hepatocytes. 100 μL 11 to 12 Days
$577.33
Details
Mouse Rabbit Un-conjugated ELISA   25 μL 6 to 7 Days
$456.52
Details
Human Rabbit Un-conjugated ELISA   100 μL 6 to 7 Days
$545.42
Details
Human Rabbit Un-conjugated ELISA   100 μL 6 to 7 Days
$545.42
Details
Human Rabbit Un-conjugated ELISA   100 μL 6 to 7 Days
$545.42
Details
Human Rabbit Un-conjugated ELISA   100 μL 11 to 14 Days
$654.50
Details
Human Rabbit Biotin ELISA   100 μg 11 to 16 Days
$469.05
Details
Human Rabbit FITC ELISA   100 μg 11 to 16 Days
$469.05
Details

More Antibodies against PKHD1 Interaction Partners

Human Polycystic Kidney and Hepatic Disease 1 Protein (PKHD1) interaction partners

  1. PKHD1 c.4274T>G (p.Leu1425Arg), c.10445G>C (p.Arg3482Pro), c.5979_5981delTGG and c.9455delA were likely to be pathogenic mutations in infantile polycystic kidney disease

  2. This work indicates a novel role for non-canonical Wnt/planar cell polarity signalling in Autosomal Recessive Polycystic Kidney Disease and suggests ATMIN as a modulator of PKHD1.

  3. Mutational analysis of the PKHD1 gene was performed in 11 families with a history of 1 to 6 fetuses or children affected by autosomal recessive polycystic kidney disease, which either were aborted or died shortly after birth. Four novel mutations were identified.

  4. Case Report: PKHD1 missense mutations in a Chinese family with congenital hepatic fibrosis.

  5. Intronic mutation of PKHD1 gene is associated with autosomal recessive polycystic kidney disease.

  6. The presence of two truncating mutations in PKHD1 is associated with the most severe perinatal phenotype

  7. we detected a novel obesity and BMI-associated locus at PKHD1 and novel variants driving associations at previously established signals (e.g. rs205262 at the SNRPC/C6orf106 locus and rs112446794 at the PRDM6-CEP120 locus).

  8. Case Report: bioinformatics tools correctly predicted the pathogenicity of PKHD1 missense mutation in autosomal recessive polycystic kidney disease.

  9. SEven novel mutations in PKHD1 gene were identified in 15 Chinese families with polycystic kidney disease.

  10. This report expands the spectrum of PKHD1 mutations in probands with autosomal recessive polycystic kidney disease and confirms the allelic heterogeneity of this disorder.

  11. In this study, the entire PKHD1 coding region was amplified by 29 reactions to avoid the specific PCR amplification of individual exons, which generated the size of 1 to 7 kb products by LR PCR. This method was compared to the screening method with standard direct sequencing of each individual exon of the gene by a reference laboratory in 15 patients with ARPKD

  12. Data show that the compound heterozygous mutations of c.11314C>T from mother and a missense c.889T>A from father of the polycystic kidney and hepatic disease 1 protein (PKHD1) gene were identified in the fetus.

  13. Compound heterozygous PKHD1 variants cause a wide spectrum of ductal plate malformations.

  14. Study tested 7 families with fetus or newborn affected with autosomal recessive polycystic kidney disease, variant c.3761_3762delCCinsG, an indel variant resulting in frameshift p.Ala1254GlyfsX49 was detected in 9 parents (5 families).

  15. Results identified six novel mutations (PKHD1: p.Thr777Met, p.Tyr2260Cys; ABCB11: p.Val1112Phe, c.611+1G > A, p.Gly628Trpfs*3 and NPC1: p.Glu391Lys) for the diagnostic of inherited infantile cholestatic disorders.

  16. Data indicate that seventeen different polycystic kidney and hepatic disease 1 (autosomal recessive) protein (PKHD1) mutations (5 novel) were detected, including deletion of one exon.

  17. Our data provide strong evidence that the p.M627K substitution at the PKHD1 locus is a founder mutation for Autosomal recessive polycystic kidney disease in the Afrikaner population

  18. A novel c.9059T>C mutation in PKHD1 gene expands mutation spectrum for autosomal recessive polycystic kidney disease.

  19. Both polycystins were detected on the spindle and mid-body of mitotic cells, while fibrocystin was on centrosome throughout cell cycle.

  20. Intragenic motifs regulate the transcriptional complexity of Pkhd1/PKHD1

Mouse (Murine) Polycystic Kidney and Hepatic Disease 1 Protein (PKHD1) interaction partners

  1. This work indicates a novel role for non-canonical Wnt/planar cell polarity signalling in Autosomal Recessive Polycystic Kidney Disease and suggests ATMIN as a modulator of PKHD1.

  2. Pkhd1(Flox67HA) is a valid mouse model of autosomal recessive polycystic kidney disease to track Pkhd1-derived products containing the C-terminus. Significantly, exon 67 containing the nuclear localization signal and the polycystin-2 binding domain is not essential for Fibrocystin function in this model.

  3. this study shows that loss of functional Pkhd1 on the NOD background produces early bile duct abnormalities, initiating a break in tolerance that leads to autoimmune cholangitis in NOD.Abd3 congenic mice

  4. fibrocystin-defective cholangiocytes are characterized by a beta-catenin-dependent secretion of a range of chemokines which stimulate bone marrow-derived macrophage recruitment

  5. Intragenic motifs regulate the transcriptional complexity of Pkhd1/PKHD1

  6. Mutations in the Pkhd1 gene result in autosomal recessive polycystic kidney disease (ARPKD) in humans.

  7. PKHD1 localizes to the mitotic spindle and regulates spindle bipolarity.

  8. Loss of oriented cell division is a feature of Pkhd1 mutation and cyst formation, but it is neither sufficient to produce kidney cysts nor required to initiate cyst formation after mutation in Pkd1 or Pkd2.

  9. key features of human PKHD1 are highly conserved in the mouse suggesting that the complicated pattern of splicing is likely to be functionally important.

  10. In cultured renal cells, the PKHD1 gene product colocalized with polycystin-2, the gene product of autosomal dominant polycystic disease type 2.

  11. the hepatocyte nuclear factor-1beta (HNF-1beta) C-terminal domain has a role in Pkhd1 (ARPKD) gene transcription and renal cystogenesis

  12. The role of polyductin in liver and kidney may be functionally divergent, because protein domains essential for bile duct development do not affect nephrogenesis in our mouse model.

  13. The product of the Pkhd1 gene is required for normal tubulomorphogenesis of mouse inner medullary collecting duct (IMCD) cell lines via extracellular-regulated kinase (ERK) and focal adhesion kinase (FAK) signaling.

  14. These findings suggest that FPC and polycystins share, at least in part, a common mechanotransduction pathway.

  15. Homozygous Pkhd1(del2/del2) mice were viable, fertile and exhibited hepatic, pancreatic, and renal abnormalities.

  16. supports the hypothesis of species-dependent differences in susceptibility of tissues to Pkhd1 mutations.

  17. acts as a genetic modifier for disease severity in autosomal dominant polycystic kidney disease that results from Pkd2 mutations

  18. The Pkhd1 (lacZ/lacZ ) mouse represents a new orthologous animal model for studying the pathogenesis of kidney cysts and biliary dysgenesis that characterize human ARPKD.

  19. Polycystin-2 down-regulation is accompanied by a phenotype similar to that of Pkhd1(-/-) mice

  20. polycystin-1, polycystin-2, and fibrocystin are shed in membrane particles in the urine, and these particles interact with primary cilia

PKHD1 Antigen Profile

Protein Summary

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.

Gene names and symbols associated with PKHD1

  • PKHD1, fibrocystin/polyductin (PKHD1) antibody
  • polycystic kidney and hepatic disease 1 (Pkhd1) antibody
  • AI118496 antibody
  • AI182499 antibody
  • ARPKD antibody
  • FCYT antibody
  • FPC antibody
  • Tigm1 antibody

Protein level used designations for PKHD1

TIG multiple domains 1 , fibrocystin , polycystic kidney and hepatic disease 1 protein , polyductin , tigmin , polycystic kidney and hepatic disease 1 (autosomal recessive) , polycystic kidney and hepatic disease 1 homolog

GENE ID SPECIES
5314 Homo sapiens
241035 Mus musculus
301287 Rattus norvegicus
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