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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
KCNA4 - Potassium Voltage-gated Channel Subfamily A Member 4
Alias:
HK1
HBK4
PCN2
HPCN2
HUKII
KCNA8
KV1.4
KCNA4L
MCIDDS
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
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。在果蝇中已经发现了四个与钾通道基因序列相关的基因——shaker、shaw、shab和shal,每个基因都有其人类同源基因。这个基因编码一个属于钾通道、电压门控、shaker相关亚家族的成员。这个成员包含六个跨膜结构域,第四个区段有一个shaker类型的重复。它属于A型钾电流类,这类成员可能在心脏动作电位的快速复极化阶段的调节中具有重要意义,从而可能影响心脏动作电位的持续时间。[RefSeq,2011年3月提供]
Related ID:
NCBI:3739
ENSEMBL:ENSG00000182255
HGNC:6222
UNIPROT:P22459
OMIM:176266
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
3739
1
2
7301 bp
73.26
29
1
3
9
KCNA4 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
Organ
Abundance
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Interactions
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Acting
Regulation
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Residues
Reference
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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