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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
GP1BA - Glycoprotein Ib Platelet Subunit Alpha
Alias:
BSS
GP1B
VWDP
CD42B
GPIbA
BDPLT1
BDPLT3
DBPLT3
GPIbalpha
CD42b-alpha
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
糖蛋白Ib(GP Ib)是一种由异二聚体α链和β链组成的血小板表面膜糖蛋白,通过二硫键连接。Gp Ib作为von Willebrand因子的受体发挥作用。完整的受体复合物包括α和β亚单位与非共价结合的血小板糖蛋白IX和血小板糖蛋白V。GP Ib-IX-V复合物与VWF的结合有助于血小板在血管损伤后最初粘附到内皮下层,并在血小板内启动信号事件,导致血小板激活、血栓形成和止血增强。此基因编码α亚单位。此基因的突变导致Bernard-Soulier综合征和血小板型von Willebrand病。此基因的编码区域已知包含与非动脉硬化性前缺血性视神经病变易感性相关的多态性可变数串联重复(VNTR)结构域。[RefSeq,2013年10月提供]
Related ID:
NCBI:2811
ENSEMBL:ENSG00000185245
HGNC:4439
UNIPROT:P07359
OMIM:606672
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
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Reference
2811
1
2
2747 bp
71.54
146
6
4
37
GP1BA Genetics information (+)
GRCh38
Sequence Homology
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* This data comes from NCBI.
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