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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
KCNE1 - Potassium Voltage-gated Channel Subfamily E Regulatory Subunit 1
Alias:
ISK
JLNS
LQT5
MinK
JLNS2
LQT2/5
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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钾通道KCNE家族。钾离子通道对许多细胞功能至关重要,并表现出高度多样性,其电生理和药理学特性各不相同。这个基因编码一种已知与KVLQT1基因产物结合形成延迟整流钾通道的跨膜蛋白。这个基因的突变与Jervell和Lange-Nielsen以及Romano-Ward形式的长QT综合症相关。已经发现了编码相同蛋白质的替代剪接转录变异体。[由RefSeq,2008年7月提供]
Related ID:
NCBI:3753
ENSEMBL:ENSG00000180509
HGNC:6240
UNIPROT:P15382
OMIM:176261
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
3753
9
4
65523 bp
14.68
317
7
8
27
KCNE1 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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No data available
Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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Name
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Status
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References Literature
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