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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
NOS1 - Nitric Oxide Synthase 1
Alias:
NOS
bNOS
nNOS
IHPS1
N-NOS
NC-NOS
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质属于一氧化氮合酶家族,该家族可以从L-精氨酸合成一氧化氮。一氧化氮是一种活性自由基,作为几个过程中的生物介质,包括神经传导、抗菌和抗肿瘤活性。在大脑和外周神经系统中,一氧化氮表现出许多神经递质的特性,并与中风和神经退行性疾病的神经毒性、包括蠕动和平滑肌神经调节以及阴茎勃起有关。这个蛋白质广泛表达,在骨骼肌中表达水平较高。已经描述了这个基因的多个转录本变异体,但在这些转录本的全长度性质尚不清楚。此外,已经发现了这个基因的不同剪接的转录本变异体,编码不同的异构体(一些特异性在睾丸中)。[RefSeq,2011年2月提供]
Related ID:
NCBI:4842
ENSEMBL:ENSG00000089250
HGNC:7872
UNIPROT:P29475
OMIM:163731
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
4842
4
29
153485 bp
160.97
103
2
9
11
NOS1 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)
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CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Alphabetical
Cell-specific RNA expression
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Type
Name
MGI
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No data available
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Name
CAS Number
Status
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Link
No data available
References Literature
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Journal
Year
IF
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