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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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CAMK2A - Calcium/calmodulin Dependent Protein Kinase II Alpha
Alias:
CAMKA
MRD53
MRT63
CaMKIIalpha
CaMKIINalpha
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因的产物属于丝氨酸/苏氨酸蛋白激酶家族,以及Ca(2+)/钙调蛋白依赖性蛋白激酶亚家族。钙信号对于谷氨酸能突触的可塑性几个方面至关重要。这个钙钙调蛋白依赖性蛋白激酶由四个不同的链组成:α链,β链,γ链和δ链。这个基因编码的α链对于海马长时程增强(LTP)和空间学习是必需的。除了其钙-钙调蛋白(CaM)依赖性活性外,这个蛋白还可以经历自磷酸化,导致CaM非依赖性活性。已经在这个基因中鉴定出几种编码不同异型的转录变异体。[由RefSeq,2018年6月提供]
Related ID:
NCBI:815
ENSEMBL:ENSG00000070808
HGNC:1460
UNIPROT:Q9UQM7
OMIM:114078
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
815
5
19
70640 bp
54.09
101
3
18
14
CAMK2A Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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Transcript
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* This data comes from NCBI.
Gene Expression
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