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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
CHRNA4 - Cholinergic Receptor Nicotinic Alpha 4 Subunit
Alias:
EBN
BFNC
EBN1
NACHR
NACRA4
NACHRA4
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一种烟碱型乙酰胆碱受体,属于一类在突触处的快速信号传递中起作用的配体门控离子通道超家族。这种五聚体受体可以结合乙酰胆碱,导致构象的广泛变化,从而在质膜上形成一个离子传导通道。这种蛋白质是一个完整的膜受体亚基,可以与nAChR beta-2或nAChR beta-4相互作用,形成功能性的受体。这个基因的突变会导致夜发性额叶癫痫1型。这个基因的多态性可以提供对尼古丁成瘾的保护。可变剪接导致多个转录变异体。[RefSeq,2012年2月提供]
Related ID:
NCBI:1137
ENSEMBL:ENSG00000101204
HGNC:1958
UNIPROT:P43681
OMIM:118504
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
1137
2
6
18127 bp
69.96
915
3
20
12
CHRNA4 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
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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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