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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
SNCA - Synuclein Alpha
Alias:
PD1
NACP
PARK1
PARK4
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
阿尔法-突触核蛋白是突触核蛋白家族的一员,还包括贝塔-和伽马-突触核蛋白。突触核蛋白在大脑中大量表达,阿尔法-和贝塔-突触核蛋白能选择性地抑制磷脂酶D2。SNCA可能参与突触前信号传递和膜转运的整合。SNCA的缺陷与帕金森病的病理生理有关。SNCA肽是阿尔茨海默病患者大脑中淀粉样斑块的主要成分。已发现该基因编码不同异构体的可变剪接转录本。[RefSeq,2016年2月提供]
Related ID:
NCBI:6622
ENSEMBL:ENSG00000145335
HGNC:11138
UNIPROT:P37840
OMIM:163890
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
6622
15
6
114206 bp
14.46
158
6
23
45
SNCA 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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