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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
SOAT1 - Sterol O-acyltransferase 1
Alias:
ACAT
SOAT
STAT
ACACT
ACAT1
ACAT-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
这个基因编码的蛋白质属于酰基转移酶家族。它位于内质网中,催化脂肪酸-胆固醇酯的形成。这个基因已经涉及到通过控制游离胆固醇和细胞质胆固醇酯之间的平衡来形成β-淀粉样蛋白和动脉粥样硬化斑块。已经发现了这个基因的可变剪接转录变异体。[由RefSeq, Nov 2011提供]
Related ID:
NCBI:6646
ENSEMBL:ENSG00000057252
HGNC:11177
UNIPROT:P35610
OMIM:102642
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
6646
7
16
64884 bp
64.73
22
--
8
16
SOAT1 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Anatomical Category
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Mutations
No data available
Transcripts & Proteins
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Transcript
Length(nt)
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CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
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Type
Name
MGI
Strain of Origin
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Mutations
No data available
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Status
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Link
No data available
References Literature
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No Data Found!
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