NOTCH3 (NM_000435) Human Mutant ORF Clone

Specifications

Product Data
Product Name	NOTCH3 (NM_000435) Human Mutant ORF Clone
Mutation Description	R544C
Affected Codon#	544
Affected NT#	1630
Nucleotide Mutation	NOTCH3 Mutant (R544C), Myc-DDK-tagged ORF clone of Homo sapiens notch 3 (NOTCH3) as transfection-ready DNA
Effect	CADASIL
Synonyms	CADASIL; CADASIL1; CASIL; IMF2; LMNS
Vector	pCMV6-Entry
Tag	Myc-DDK
ACCN	NM_000435
ORF Size	6963 bp
Restriction Sites	SgfI-MluI      Cloning Scheme for this gene
OTI Disclaimer	Due to the inherent nature of this plasmid, standard methods to replicate additional amounts of DNA in E. coli are highly likely to result in mutations and/or rearrangements. Therefore, OriGene does not guarantee the capability to replicate this plasmid DNA. Additional amounts of DNA can be purchased from OriGene with batch-specific, full-sequence verification at a reduced cost. Please contact our customer care team at custsupport@origene.com or by calling 301.340.3188 option 3 for pricing and delivery. The molecular sequence of this clone aligns with the gene accession number as a point of reference only. However, individual transcript sequences of the same gene can differ through naturally occurring variations (e.g. polymorphisms), each with its own valid existence. This clone is substantially in agreement with the reference, but a complete review of all prevailing variants is recommended prior to use. More info
OTI Annotation	This clone was engineered to express the complete ORF with an expression tag. Expression varies depending on the nature of the gene.
Reference Data
RefSeq	NP_000426
RefSeq Size	6963 bp
RefSeq ORF	6966 bp
Locus ID	4854
Domains	NL, EGF_CA, ANK, EGF, EGF
Protein Families	Druggable Genome
Protein Pathways	Dorso-ventral axis formation, Notch signaling pathway
MW	255.3 kDa
Gene Summary	This gene 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). [provided by RefSeq, Jul 2008]

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