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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
SOAT2 - Sterol O-acyltransferase 2
Alias:
ACAT2
ARGP2
ACACT2
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因是一个小的酰基辅酶A:胆固醇酰基转移酶家族的成员。这个基因编码一个定位在内质网上的膜结合酶,该酶从长链脂肪酸CoA和胆固醇产生细胞内胆固醇酯。然后,这些胆固醇酯作为细胞质脂质滴被储存起来。该酶与肠道中胆固醇的吸收以及含有载脂蛋白B的脂蛋白如极低密度脂蛋白(VLDL)的组装和分泌有关。已经描述了这个基因的几个可变剪接转录变异体,但它们的全长性质尚不清楚。[由RefSeq,2008年7月提供]
Related ID:
NCBI:8435
ENSEMBL:ENSG00000167780
HGNC:11178
UNIPROT:O75908
OMIM:601311
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
8435
6
15
21050 bp
59.90
30
--
10
11
SOAT2 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
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
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Abundance
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Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
Phase
Link
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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