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中文人类
KRIT1 - KRIT1 Ankyrin Repeat Containing
Alias:
CAM
CCM1
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这个基因编码一个含有四个ankyrin重复序列，一个band 4.1/ezrin/radixin/moesin（FERM）结构域和多个NPXY序列的蛋白质。编码的蛋白质定位于细胞核和细胞质中。它结合整合素胞质结构域关联蛋白-1α（ICAP1α），并在β1整合素介导的细胞增殖中起到关键作用。它与连接蛋白和RAS相关蛋白1A（Rap1A）相关联，后者需要编码的蛋白质来维持内皮连接的完整性。它也是一种微管相关蛋白，可能参与微管的定位。这个基因的突变导致脑内毛细血管畸形。已经发现这个基因的多个可变剪接转录变异体。[由RefSeq，2009年9月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
KRIT1 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
