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中文人类
CASK - Calcium/calmodulin Dependent Serine Protein Kinase
Alias:
CMG
FGS4
LIN2
TNRC8
hCASK
CAGH39
CAMGUK
MICPCH
MRXSNA
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这个基因编码一个钙/钙调素依赖性丝氨酸蛋白激酶。编码的蛋白质是MAGUK（膜关联鸟苷酸激酶）蛋白质家族成员。这些蛋白质是支架蛋白，编码的蛋白质位于大脑中的突触。这个基因的突变与FG综合征4、智力障碍和脑桥和小脑发育不良以及一种X连锁智力障碍有关。已经发现这个基因有多个转录变异体，编码不同的异构体。[由RefSeq，2017年7月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
CASK 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
