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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
SERPINC1 - Serpin Family C Member 1
Alias:
AT3
AT3D
ATIII
THPH7
ATIII-R2
ATIII-T1
ATIII-T2
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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,抗凝血酶III,是一种血浆蛋白酶抑制剂,也是丝氨酸蛋白酶抑制物超家族的一员。这个蛋白质可抑制凝血酶以及凝血系统中的其他激活的丝氨酸蛋白酶,并调控血液凝固级联反应。该蛋白质包括两个功能结构域:成熟蛋白质N端的开环结合结构域和C端的反应部位结构域。抑制活性在肝素存在下得到增强。已在这个基因中鉴定出许多突变,其中许多已知导致抗凝血酶-III缺乏,这是血栓形成的强风险因素。这个蛋白质的血清水平降低与19年冠状病毒病(COVID-19)的严重病例有关。[RefSeq,2020年9月提供]
Related ID:
NCBI:462
ENSEMBL:ENSG00000117601
HGNC:775
UNIPROT:P01008
OMIM:107300
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
462
7
7
13528 bp
52.60
286
1
4
67
SERPINC1 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
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Score
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No data available
Transcripts & Proteins
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Transcript
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No data available
* This data comes from NCBI.
Gene Expression
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Name
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Status
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References Literature
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