Log In|Sign Up
中文人类
KCNQ4 - Potassium Voltage-gated Channel Subfamily Q Member 4
Alias:
DFNA2
KV7.4
DFNA2A
Favorite
这个基因编码的蛋白质形成一个钾通道，被认为在调节神经元兴奋性方面起着关键作用，特别是在耳蜗的感觉细胞中。这个通道产生的电流被M1型毒蕈碱乙酰胆碱受体抑制，被新型抗惊厥药物瑞替加滨激活。编码的蛋白质可以形成同质多聚体钾通道，或者可能与KCNQ3基因编码的蛋白质形成异质多聚体通道。这个基因的缺陷是导致非综合征性感觉神经性聋2型（DFNA2）的原因，这是一种进行性听力损失的常染色体显性形式。这个基因发现了两种转录变体，编码不同的同源异型体。[由RefSeq提供，2008年7月]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
KCNQ4 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
