≡

Protocadherin 19 (PCDH19)

[Edit]

Protocadherin 19 (PCDH19)
CCC E099
HGNC 14270
MGI 2685563
PubMed 22267240
RGD 1565392
UniProt Q8TAB3
Protocadherins form a subfamily of calcium-dependent cell-cell adhesion molecules in the cadherin superfamily. Protocadherin-10 belongs to a subclass of protocadherins that share a highly conserved 17-amino acid cytoplasmic motif. PCDH19 belongs to the delta-2 protocadherin subclass of the cadherin superfamily. a subfamily of the cadherin superfamily.Protocadherins were discovered by Shintaro Suzuki's group, when they used PCR to find new members of the cadherin family. The PCR fragments that corresponded to Protocadherins were found in vertebrate and invertebrate species. This prevalence in a wide range of species suggested that the fragments were part of an ancient cadherin and were thus termed "Protocadherins" as the "first cadherins".

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Protocadherin 19 (PCDH19) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Protocadherin 19 (PCDH19) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Protocadherin 19 (PCDH19) Polyclonal Antibody Customized Service Offer
Assay Kits SEE099Hu ELISA Kit for Protocadherin 19 (PCDH19) Enzyme-linked immunosorbent assay for Antigen Detection.

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Protocadherin 19 (PCDH19) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Protocadherin 19 (PCDH19) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Protocadherin 19 (PCDH19) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Protocadherin 19 (PCDH19) CLIA Kit Customized Service Offer
n/a ELISA Kit for Protocadherin 19 (PCDH19) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPE099Ra01 Recombinant Protocadherin 19 (PCDH19) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies n/a Monoclonal Antibody to Protocadherin 19 (PCDH19) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Protocadherin 19 (PCDH19) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Protocadherin 19 (PCDH19) CLIA Kit Customized Service Offer
n/a ELISA Kit for Protocadherin 19 (PCDH19) ELISA Kit Customized Service Offer
  1. "X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment." Nat. Genet. 40:776-781(2008) [PubMed] [Europe PMC] [Abstract]
  2. "The DNA sequence of the human X chromosome." Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
  3. "The full-ORF clone resource of the German cDNA consortium."BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
  4. "Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro."DNA Res. 7:65-73(2000) [PubMed] [Europe PMC] [Abstract]
  5. "Identification and characterization of three members of a novel subclass of protocadherins."Genomics 76:66-72(2001) [PubMed] [Europe PMC] [Abstract]
  6. "Novel de novo PCDH19 mutations in three unrelated females with epilepsy female restricted mental retardation syndrome."Am. J. Med. Genet. A 152:2475-2481(2010) [PubMed] [Europe PMC] [Abstract]
  7. "Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females." PLoS Genet. 5:E1000381-E1000381(2009) [PubMed] [Europe PMC] [Abstract]
  8. "Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families."J. Med. Genet. 47:211-216(2010) [PubMed] [Europe PMC] [Abstract]
  9. "Protocadherin 19 mutations in girls with infantile-onset epilepsy."Neurology 75:646-653(2010) [PubMed] [Europe PMC] [Abstract]
  10. "Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations."Epilepsia 52:1251-1257(2011) [PubMed] [Europe PMC] [Abstract]
  11. "Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females." Hum. Mutat. 32:E1959-E1975(2011) [PubMed] [Europe PMC] [Abstract]
  12. "Recurrence risk of epilepsy and mental retardation in females due to parental mosaicism of PCDH19 mutations."Neurology 76:1514-1519(2011) [PubMed] [Europe PMC] [Abstract]
  13. "PCDH19 mutation in Japanese females with epilepsy."Epilepsy Res. 99:28-37(2012) [PubMed] [Europe PMC] [Abstract]
  14. "PCDH19-related infantile epileptic encephalopathy: An unusual X-linked inheritance disorder."Hum. Mutat. 33:627-634(2012) [PubMed] [Europe PMC] [Abstract]