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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
SERPIND1 - Serpin Family D Member 1
Alias:
HC2
LS2
HCF2
HCII
HLS2
THPH10
D22S673
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因属于丝氨酸蛋白酶抑制因子基因超家族。丝氨酸蛋白酶抑制因子在许多过程中发挥作用,包括炎症、凝血和癌症转移。这个家族的成员具有高度保守的二级结构,具有一个与蛋白酶活性部位相互作用的活性中心环,以抑制蛋白酶活性。这个基因编码一种作为凝血酶和胰凝乳蛋白酶抑制剂的血浆丝氨酸蛋白酶。该蛋白由肝素、皮肤素硫酸盐和糖胺聚糖激活。这个基因的等位基因变异与肝素辅因子II缺乏症有关。[RefSeq,2015年7月提供]
Related ID:
NCBI:3053
ENSEMBL:ENSG00000099937
HGNC:4838
UNIPROT:P05546
OMIM:142360
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
3053
1
5
13608 bp
57.07
39
1
5
21
SERPIND1 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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