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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
PROS1 - Protein S
Alias:
PSA
PROS
PS21
PS22
PS23
PS24
PS25
THPH5
THPH6
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一种依赖于维生素K的血浆蛋白,作为抗凝蛋白酶活化蛋白C(APC)的辅因子,抑制血液凝固。它在血浆中以自由、功能活性形式存在,同时也以与C4b结合蛋白复合的无活性形式存在。这个基因的突变导致常染色体显性遗传性血栓形成倾向。这个位置的无效伪基因位于染色体3上的一个相邻区域。可选的剪接导致编码不同异构体的多种转录变异体,这些异构体可能经历类似的加工以生成成熟蛋白质。[RefSeq,2015年10月提供]
Related ID:
NCBI:5627
ENSEMBL:ENSG00000184500
HGNC:9456
UNIPROT:P07225
OMIM:176880
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
5627
2
15
100846 bp
75.12
366
3
8
42
PROS1 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
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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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