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中文人类
KCNQ3 - Potassium Voltage-gated Channel Subfamily Q Member 3
Alias:
EBN2
BFNC2
KV7.3
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这个基因编码一种在调节神经元兴奋性中起作用的蛋白质。编码的蛋白质通过与相关的KCNQ2或KCNQ5基因产物结合形成M通道，这两个基因都编码整膜蛋白。M通道电流受到M1烟碱乙酰胆碱受体的抑制，并被新型抗癫痫药物retigabine激活。这个基因的缺陷是2型良性家族性新生儿惊厥（BFNC2）的原因，也称为2型良性新生儿癫痫（EBN2）。这个基因的可变剪接导致多个转录变异体。[RefSeq，2014年5月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
KCNQ3 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
Table View
Tile View
#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
Alphabetical
Interactions
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Link
References Literature
Title
PMID
Journal
Year
IF
