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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
F11 - Coagulation Factor XI
Alias:
FXI
PTA
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码血液凝固级联中的凝血因子XI。这种蛋白质以酶原形式存在于血浆中,它是一种独特的血浆凝血酶,因为它是通过由二硫键连接的两个相同多肽链组成的一个同源二聚体存在。在血浆因子XI的激活过程中,每个链中的因子XIIa(或XII)切割一个内部肽键,产生活化的因子XIa,这是一种由二硫键连接的两个重链和两个轻链组成的丝氨酸蛋白酶。这种活化的血浆因子XI通过激活因子IX触发血液凝固的内源性途径的中期。这个因子中的缺陷导致Rosenthal综合征,一种血液凝固异常。[由RefSeq,2008年7月提供]
Related ID:
NCBI:2160
ENSEMBL:ENSG00000088926
HGNC:3529
UNIPROT:P03951
OMIM:264900
Basic Information
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Exons
Length
MW (kDa)
Mutations
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2160
16
15
23493 bp
70.11
534
2
5
34
F11 Genetics information (+)
GRCh38
Sequence Homology
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* This data comes from NCBI.
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