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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
ANGPTL3 - Angiopoietin Like 3
Alias:
ANL3
ANG-5
FHBL2
ANGPT5
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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蛋白家族的成员,该家族在血管生成中发挥作用。编码的蛋白质主要在肝脏中表达,进一步加工成含有N-端螺旋卷域的链和C-端纤维蛋白链。N-端链对脂质代谢很重要,而C-端链可能涉及血管生成。这个基因的突变导致家族性低β-脂蛋白血症2型。[RefSeq,2015年8月提供]
Related ID:
NCBI:27329
ENSEMBL:ENSG00000132855
HGNC:491
UNIPROT:Q9Y5C1
OMIM:604774
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
27329
1
7
8794 bp
53.64
71
1
11
31
ANGPTL3 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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Name
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Mutations
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Status
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Link
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References Literature
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