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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
ANTXR1 - ANTXR Cell Adhesion Molecule 1
Alias:
ATR
GAPO
TEM8
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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I型跨膜蛋白,是肿瘤特异性的内皮细胞标志物,与结直肠癌有关。已发现其编码的蛋白质也是炭疽杆菌毒素的接合蛋白或受体,炭疽病的病因是炭疽杆菌。三聚体炭疽毒素的保护抗原(PA)成分与这个受体蛋白质结合,将毒素成分传递到细胞质中。一旦进入细胞,炭疽毒素的其他两个成分水肿因子(EF)和致死因子(LF)就会破坏正常的细胞过程。已经描述了三种可变剪接的变异体,它们编码不同的蛋白质异构体。[RefSeq,2008年10月提供]
Related ID:
NCBI:84168
ENSEMBL:ENSG00000169604
HGNC:21014
UNIPROT:Q9H6X2
OMIM:606410
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
84168
6
18
236184 bp
62.79
130
2
10
17
ANTXR1 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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Length(aa)
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* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Cell-specific RNA expression
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Type
Name
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Status
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Link
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References Literature
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