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中文人类
KCNT1 - Potassium Sodium-activated Channel Subfamily T Member 1
Alias:
DEE14
ENFL5
SLACK
EIEE14
KCa4.1
Slo2.2
bA100C15.2
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钾通道在功能和结构上都是电压门控离子通道中最复杂的类别。它们的功能多样，包括调节神经递质释放、心率、胰岛素分泌、神经元兴奋性、上皮电解质运输、平滑肌收缩和细胞体积。这个基因编码一个钠激活的钾通道亚基，被认为在离子传导和发育信号通路中发挥作用。这个基因的突变导致早发的癫痫性疾病，包括婴儿恶性迁移部分癫痫和常染色体显性夜间额叶癫痫。可变剪接导致多个转录变异体。[RefSeq，2012年12月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
KCNT1 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
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Tile View
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Transcript
Length(nt)
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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
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Name
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References Literature
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