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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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中文
人类
KCNN3 - Potassium Calcium-activated Channel Subfamily N Member 3
Alias:
SK3
ZLS3
hSK3
SKCA3
KCa2.3
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
动作电位在脊椎动物神经元中后伴随着一个后超极化(AHP),可能持续数秒,可能对神经元的发放模式产生重大影响。AHP的每个成分在动力学上都是独特的,由不同的钙激活钾通道介导。这个基因属于钾通道KCNN家族。它编码一个整合膜蛋白,形成一个电压独立的钙激活通道,被认为通过贡献突触AHP的慢成分来调节神经元兴奋性。这个基因在编码序列中含有两个CAG重复区。人们认为这些重复扩展中的一个或两个可能导致精神分裂症或双相障碍的易感性增加,但研究表明这可能不是这种情况。已经发现这个基因的不同剪接转录变异体编码不同的异构体。[RefSeq,2011年2月提供]
Related ID:
NCBI:3782
ENSEMBL:ENSG00000143603
HGNC:6292
UNIPROT:Q9UGI6
OMIM:602983
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
3782
5
8
172827 bp
81.39
83
2
8
8
KCNN3 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
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#
Transcript
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No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Cell-specific RNA expression
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Interactions
Reset
Acting
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Type
Name
MGI
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Mutations
No data available
Related Drugs
Name
CAS Number
Status
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Link
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References Literature
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No Data Found!
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