Polycystic Kidney And Hepatic Disease 1 Protein (PKHD1)

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TIGM1; ARPKD; FCYT; Tigmin, Polyductin; Fibrocystin; TIG Multiple Domains 1

Polycystic Kidney And Hepatic Disease 1 Protein (PKHD1)
PKHD1 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. The large protein encoded by PKHD1 contains multiple copies of a domain, TIG, shared with plexins and transcription factors. It was thought that fibrocystin may be a receptor protein that acts in collecting duct and biliary differentiation.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Polycystic Kidney And Hepatic Disease 1 Protein (PKHD1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Polycystic Kidney And Hepatic Disease 1 Protein (PKHD1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Polycystic Kidney And Hepatic Disease 1 Protein (PKHD1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Polycystic Kidney And Hepatic Disease 1 Protein (PKHD1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Polycystic Kidney And Hepatic Disease 1 Protein (PKHD1) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Polycystic Kidney And Hepatic Disease 1 Protein (PKHD1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Polycystic Kidney And Hepatic Disease 1 Protein (PKHD1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Polycystic Kidney And Hepatic Disease 1 Protein (PKHD1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Polycystic Kidney And Hepatic Disease 1 Protein (PKHD1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Polycystic Kidney And Hepatic Disease 1 Protein (PKHD1) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Polycystic Kidney And Hepatic Disease 1 Protein (PKHD1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Polycystic Kidney And Hepatic Disease 1 Protein (PKHD1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Polycystic Kidney And Hepatic Disease 1 Protein (PKHD1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Polycystic Kidney And Hepatic Disease 1 Protein (PKHD1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Polycystic Kidney And Hepatic Disease 1 Protein (PKHD1) ELISA Kit Customized Service Offer
  1. "The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein."Nat. Genet. 30:259-269(2002) [PubMed] [Europe PMC] [Abstract]
  2. "PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like-plexin-transcription-factor domains and parallel beta-helix 1 repeats."Am. J. Hum. Genet. 70:1305-1317(2002) [PubMed] [Europe PMC] [Abstract]
  3. "A novel gene encoding a TIG multiple domain protein is a positional candidate for autosomal recessive polycystic kidney disease."Genomics 80:96-104(2002) [PubMed] [Europe PMC] [Abstract]
  4. "The DNA sequence and analysis of human chromosome 6." Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
  5. "PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD)."Hum. Mutat. 23:453-463(2004) [PubMed] [Europe PMC] [Abstract]
  6. "The autosomal recessive polycystic kidney disease protein is localized to primary cilia, with concentration in the basal body area."J. Am. Soc. Nephrol. 15:592-602(2004) [PubMed] [Europe PMC] [Abstract]
  7. "Polyductin, the PKHD1 gene product, comprises isoforms expressed in plasma membrane, primary cilium, and cytoplasm."Kidney Int. 66:1345-1355(2004) [PubMed] [Europe PMC] [Abstract]
  8. "Polycystic kidney disease protein fibrocystin localizes to the mitotic spindle and regulates spindle bipolarity."Hum. Mol. Genet. 19:3306-3319(2010) [PubMed] [Europe PMC] [Abstract]
  9. "Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1)."J. Am. Soc. Nephrol. 14:76-89(2003) [PubMed] [Europe PMC] [Abstract]
  10. "Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations."J. Am. Soc. Nephrol. 14:2004-2014(2003) [PubMed] [Europe PMC] [Abstract]
  11. "A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees."Kidney Int. 64:391-403(2003) [PubMed] [Europe PMC] [Abstract]
  12. "PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD)."Hum. Mutat. 23:487-495(2004) [PubMed] [Europe PMC] [Abstract]
  13. "Successful transplantation in a child with rapid progression of autosomal recessive polycystic kidney disease associated with a novel mutation."Pediatr. Transplant. 10:362-366(2006) [PubMed] [Europe PMC] [Abstract]
  14. "The consensus coding sequences of human breast and colorectal cancers." Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]
  15. "PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis."Mol. Genet. Metab. 99:160-173(2010) [PubMed] [Europe PMC] [Abstract]