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中文人类
NOTCH3 - Notch Receptor 3
Alias:
IMF2
LMNS
CASIL
CADASIL
CADASIL1
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这个基因编码已发现的第三个果蝇I型膜蛋白Notch的人类同源物。在果蝇中，Notch与其细胞结合的配体（delta，serrate）相互作用，建立细胞间信号通路，在神经发育中起关键作用。Notch配体的同源物也在人类中被发现，但这些配体与人类Notch同源物之间的精确相互作用仍有待确定。NOTCH3的突变已被认为是脑皮质下缺血和白质营养不良（CADASIL）的根本原因。[由RefSeq，2008年7月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
NOTCH3 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
Table View
Tile View
#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
Alphabetical
Interactions
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Link
References Literature
Title
PMID
Journal
Year
IF
