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Notch Homolog 3 (NOTCH3)

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CADASIL; CASIL; Neurogenic locus notch homolog protein 3

Notch Homolog 3 (NOTCH3)
CCC L147
HGNC 7883
MGI 99460
PubMed 24743243
RGD 620761
UniProt Q9UM47
Wiki Notch_3
NOTCH3 encodes the third discovered human homologue of the Drosophilia melanogaster type I membrane protein notch. In Drosophilia, notch interaction with its cell-bound ligands (delta, serrate) establishes an intercellular signalling pathway that plays a key role in neural development.
Homologues of the notch-ligands have also been identified in human, but precise interactions between these ligands and the human notch homologues remains to be determined. Mutations in NOTCH3 have been identified as the underlying cause of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPL147Hu01 Recombinant Notch Homolog 3 (NOTCH3) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAL147Hu01 Polyclonal Antibody to Notch Homolog 3 (NOTCH3) WB; IHC; ICC; IP.
Assay Kits SEL147Hu ELISA Kit for Notch Homolog 3 (NOTCH3) Enzyme-linked immunosorbent assay for Antigen Detection.

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPL147Mu01 Recombinant Notch Homolog 3 (NOTCH3) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAL147Mu01 Polyclonal Antibody to Notch Homolog 3 (NOTCH3) WB; IHC; ICC; IP.
Assay Kits n/a CLIA Kit for Notch Homolog 3 (NOTCH3) CLIA Kit Customized Service Offer
n/a ELISA Kit for Notch Homolog 3 (NOTCH3) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Notch Homolog 3 (NOTCH3) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Notch Homolog 3 (NOTCH3) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Notch Homolog 3 (NOTCH3) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Notch Homolog 3 (NOTCH3) CLIA Kit Customized Service Offer
n/a ELISA Kit for Notch Homolog 3 (NOTCH3) ELISA Kit Customized Service Offer
  1. "Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia."Nature 383:707-710(1996) [PubMed] [Europe PMC] [Abstract]
  2. "The DNA sequence and biology of human chromosome 19." Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract]
  3. "Human ligands of the Notch receptor."Am. J. Pathol. 154:785-794(1999) [PubMed] [Europe PMC] [Abstract]
  4. "MAML1, a human homologue of Drosophila mastermind, is a transcriptional co-activator for NOTCH receptors."Nat. Genet. 26:484-489(2000) [PubMed] [Europe PMC] [Abstract]
  5. "Identification of a family of mastermind-like transcriptional coactivators for mammalian notch receptors."Mol. Cell. Biol. 22:7688-7700(2002) [PubMed] [Europe PMC] [Abstract]
  6. "Conserved signal peptide of Notch3 inhibits interaction with proteasome."Biochem. Biophys. Res. Commun. 355:245-251(2007) [PubMed] [Europe PMC] [Abstract]
  7. "Asparaginyl hydroxylation of the Notch ankyrin repeat domain by factor inhibiting hypoxia-inducible factor."J. Biol. Chem. 282:24027-24038(2007) [PubMed] [Europe PMC] [Abstract]
  8. "Interaction with factor inhibiting HIF-1 defines an additional mode of cross-coupling between the Notch and hypoxia signaling pathways."Proc. Natl. Acad. Sci. U.S.A. 105:3368-3373(2008) [PubMed] [Europe PMC] [Abstract]
  9. "Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients."Lancet 350:1511-1515(1997) [PubMed] [Europe PMC] [Abstract]
  10. "Quantitative MRI in CADASIL: correlation with disability and cognitive performance."Neurology 52:1361-1367(1999) [PubMed] [Europe PMC] [Abstract]
  11. "Diagnostic Notch3 sequence analysis in CADASIL: three new mutations in Dutch patients. Dutch CADASIL Research Group."Neurology 52:1913-1915(1999) [PubMed] [Europe PMC] [Abstract]
  12. "Small in-frame deletions and missense mutations in CADASIL: 3D models predict misfolding of Notch3 EGF-like repeat domains."Eur. J. Hum. Genet. 8:280-285(2000) [PubMed] [Europe PMC] [Abstract]
  13. "Identification of a novel mutation C144F in the Notch3 gene in an Australian CADASIL pedigree."Hum. Mutat. 16:449-450(2000) [PubMed] [Europe PMC] [Abstract]
  14. "Evaluation of DHPLC analysis in mutational scanning of Notch3, a gene with a high G-C content."Hum. Mutat. 16:518-526(2000) [PubMed] [Europe PMC] [Abstract]
  15. "Splice site mutation causing a seven amino acid Notch3 in-frame deletion in CADASIL."Neurology 54:1874-1875(2000) [PubMed] [Europe PMC] [Abstract]
  16. "A novel mutation in the Notch3 gene in an Italian family with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: genetic and magnetic resonance spectroscopic findings."Arch. Neurol. 58:1418-1422(2001) [PubMed] [Europe PMC] [Abstract]
  17. "Skin biopsy immunostaining with a Notch3 monoclonal antibody for CADASIL diagnosis."Lancet 358:2049-2051(2001) [PubMed] [Europe PMC] [Abstract]
  18. "Reversible coma with raised intracranial pressure: an unusual clinical manifestation of CADASIL."Acta Neuropathol. 103:188-192(2002) [PubMed] [Europe PMC] [Abstract]
  19. "CADASIL: a common form of hereditary arteriopathy causing brain infarcts and dementia."Brain Pathol. 12:371-384(2002) [PubMed] [Europe PMC] [Abstract]
  20. "C455R notch3 mutation in a Colombian CADASIL kindred with early onset of stroke."Neurology 59:277-279(2002) [PubMed] [Europe PMC] [Abstract]
  21. "A novel mutation (C67Y)in the NOTCH3 gene in a Korean CADASIL patient."J. Korean Med. Sci. 18:141-144(2003) [PubMed] [Europe PMC] [Abstract]
  22. "Genetic, clinical and pathological studies of CADASIL in Japan: a partial contribution of Notch3 mutations and implications of smooth muscle cell degeneration for the pathogenesis."J. Neurol. Sci. 212:79-84(2003) [PubMed] [Europe PMC] [Abstract]
  23. "The influence of genetic and cardiovascular risk factors on the CADASIL phenotype."Brain 127:2031-2038(2004) [PubMed] [Europe PMC] [Abstract]
  24. "Long-term prognosis and causes of death in CADASIL: a retrospective study in 411 patients."Brain 127:2533-2539(2004) [PubMed] [Europe PMC] [Abstract]
  25. "Detection of the founder effect in Finnish CADASIL families."Eur. J. Hum. Genet. 12:813-819(2004) [PubMed] [Europe PMC] [Abstract]
  26. "Gene symbol: NOTCH3. Disease: CADASIL."Hum. Genet. 115:175-175(2004) [PubMed] [Europe PMC] [Abstract]
  27. "Spectrum of mutations in biopsy-proven CADASIL: implications for diagnostic strategies."Arch. Neurol. 62:1091-1094(2005) [PubMed] [Europe PMC] [Abstract]
  28. "Gene symbol: NOTCH3. Disease: cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy."Hum. Genet. 116:242-242(2005) [PubMed] [Europe PMC] [Abstract]
  29. "Activating NOTCH3 mutation in a patient with small-vessel-disease of the brain."Hum. Mutat. 29:452-452(2008) [PubMed] [Europe PMC] [Abstract]
  30. "Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis." Am. J. Hum. Genet. 92:1001-1007(2013) [PubMed] [Europe PMC] [Abstract]
  31. "Hypomorphic NOTCH3 alleles do not cause CADASIL in humans."Hum. Mutat. 34:1486-1489(2013) [PubMed] [Europe PMC] [Abstract]