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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
SCN11A - Sodium Voltage-gated Channel Alpha Subunit 11
Alias:
NaN
PN5
FEPS3
HSAN7
SNS-2
NAV1.9
SCN12A
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
电压门控钠通道是跨膜糖蛋白复合物,由具有24个跨膜结构域的大型α亚单位和一个或多个调节性β亚单位组成。它们负责神经元和平肌细胞中动作电位的产生和传播。该基因编码钠通道α亚基基因家族的一个成员,并在背根神经节和三叉神经节的痛觉神经元中高度表达。它调节脑源性神经营养因子引起的膜去极化,是外周炎症疼痛过敏的主要效应子。该基因的突变与遗传性感觉和自主神经病变类型VII和家族性发作性疼痛综合症-3有关。替代剪接导致多个转录变异体。[RefSeq,2017年3月提供]
Related ID:
NCBI:11280
ENSEMBL:ENSG00000168356
HGNC:10583
UNIPROT:Q9UI33
OMIM:604385
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
11280
7
30
206181 bp
204.92
1196
6
15
11
SCN11A 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
Detail
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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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