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中文人类
CDKL5 - Cyclin Dependent Kinase Like 5
Alias:
DEE2
ISSX
STK9
EIEE2
CFAP247
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这个基因是Ser/Thr蛋白激酶家族的成员，编码具有蛋白激酶活性的磷酸化蛋白质。这个基因的突变与X连锁婴儿痉挛综合征（ISSX），也称为X连锁West综合征和Rett综合征（RTT）有关。已表征了可替代的转录剪接变异体。[由RefSeq，2008年7月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
CDKL5 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
