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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
ANGPT1 - Angiopoietin 1
Alias:
AGP1
AGPT
ANG1
HAE5
AGPT-1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个分泌性的糖蛋白,属于血管生成素家族。这个家族的成员在血管发育和血管生成中扮演重要角色。所有的血管生成素都以相似的亲和力与内皮细胞特异性的酪氨酸蛋白激酶受体结合。这个基因编码的蛋白质是一种分泌性的糖蛋白,通过诱导其酪氨酸磷酸化来激活受体。它在调节内皮细胞与周围基质和间质之间的相互作用中扮演关键角色,并抑制内皮细胞的通透性。这个蛋白质还有助于血管成熟和稳定性,可能涉及心脏的早期发育。这个基因的突变与遗传性血管水肿有关。[RefSeq,2020年8月提供]
Related ID:
NCBI:284
ENSEMBL:ENSG00000154188
HGNC:484
UNIPROT:Q15389
OMIM:601667
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
284
4
9
248437 bp
57.51
154
2
9
17
ANGPT1 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
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#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
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No data available
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Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
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Link
No data available
References Literature
Title
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Journal
Year
IF
No Data Found!
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