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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
KCNH1 - Potassium Voltage-gated Channel Subfamily H Member 1
Alias:
EAG
EAG1
ZLS1
hEAG
TMBTS
h-eag
hEAG1
Kv10.1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
电压门控钾(Kv)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。这个基因编码钾通道电压门控亚家族H的一个成员。这个成员是电压门控非失活延迟整流钾通道的形成孔(α)亚单位。它在成肌细胞分化的开始时激活。该基因在大脑和成肌细胞中高度表达。该基因的过度表达可能使癌细胞获得生长优势并有利于肿瘤细胞增殖。这个基因的可变剪接导致两个转录变异体,它们编码不同的异构体。[由RefSeq,2008年7月提供]
Related ID:
NCBI:3756
ENSEMBL:ENSG00000143473
HGNC:6250
UNIPROT:O95259
OMIM:603305
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
3756
5
11
455835 bp
111.42
539
2
4
20
KCNH1 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
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#
Transcript
Length(nt)
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CDS(bp)
Protein
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No data available
* This data comes from NCBI.
Gene Expression
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Cell-specific RNA expression
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Type
Name
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CAS Number
Status
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Link
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References Literature
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