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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
小鼠
Kcne1 - potassium voltage-gated channel, Isk-related subfamily, member 1
Alias:
Isk
MinK
nmf190
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
激活钾通道调节剂活性。参与钾离子跨膜运输;分泌颗粒组织;前庭核发育。在上皮细胞成熟;心脏收缩;和心脏传导对心率的调节的上游或内发挥作用。位于顶质膜。在细胞表面活跃。在几个结构中表达,包括耳朵;胚胎外胚层;生殖系统;心脏的大血管;和心脏。用于研究Jervell-Lange Nielsen综合征。这个基因的人类同源物涉及Jervell-Lange Nielsen综合征;心房颤动;长QT综合征;和长QT综合征5。与人KCNE1(钾电压门控通道E亚家族调节亚单位1)正交。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:16509
ENSEMBL:ENSMUSG00000039639
UNIPROT:P23299
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
16509
2
2
13468 bp
14.58
8
11
Kcne1 Genetics information (-)
GRCm39
Sequence Homology
Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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