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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
KCNV1 - Potassium Voltage-gated Channel Modifier Subfamily V Member 1
Alias:
HNKA
KCNB3
KV2.3
KV8.1
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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最复杂的电压门控离子通道类别。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。这个基因编码钾电压门控通道V亚家族的一员。这个蛋白在大脑中基本存在,其作用可能是抑制一类特定外向整流钾通道类型的功能。[由RefSeq,2008年7月提供]
Related ID:
NCBI:27012
ENSEMBL:ENSG00000164794
HGNC:18861
UNIPROT:Q6PIU1
OMIM:608164
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
27012
1
4
12136 bp
56.30
5
--
5
4
KCNV1 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
Alphabetical
Interactions
Reset
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
No data available
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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