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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
PROZ - Protein Z, Vitamin K Dependent Plasma Glycoprotein
Alias:
PZ
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一种在肝脏中合成的维生素K依赖的糖蛋白,并在血浆中分泌。编码的蛋白质通过与蛋白质Z依赖的蛋白酶抑制剂复合物作用,在磷脂表面直接抑制激活的因子X,从而在调节血液凝固中发挥作用。该蛋白质的缺乏与缺血性动脉疾病的风险增加和胎儿丢失有关。该基因中的突变是导致蛋白质Z缺乏的原因。交替剪接导致多个转录变异体。[RefSeq,2012年1月提供]
Related ID:
NCBI:8858
ENSEMBL:ENSG00000126231
HGNC:9460
UNIPROT:P22891
OMIM:176895
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
8858
5
8
13739 bp
44.74
41
2
4
9
PROZ Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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No data available
Transcripts & Proteins
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Transcript
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Protein
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* This data comes from NCBI.
Gene Expression
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Cell-specific RNA expression
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Name
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Status
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Link
No data available
References Literature
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