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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
KCND3 - Potassium Voltage-gated Channel Subfamily D Member 3
Alias:
KV4.3
SCA19
SCA22
BRGDA9
KCND3L
KCND3S
KSHIVB
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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最复杂的电压门控离子通道类别。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。在果蝇中已经发现了四个与钾通道基因相关的序列-shaker、shaw、shab和shal,每个基因都有一个人类同源基因。这个基因编码一个钾离子通道,电压门控,shal相关亚家族成员,它们形成电压激活的A型钾离子通道,在动作电位的复极化阶段中起着重要作用。这个成员包括两个不同大小的异构体,由这个基因的可变剪接转录变异体编码。[由RefSeq,2008年7月提供]
Related ID:
NCBI:3752
ENSEMBL:ENSG00000171385
HGNC:6239
UNIPROT:Q9UK17
OMIM:605411
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
3752
12
8
219007 bp
73.45
453
5
4
15
KCND3 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)
Exon Count
CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
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Abundance
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Interactions
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Acting
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Score
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Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
Phase
Link
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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