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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
APOE - Apolipoprotein E
Alias:
AD2
LPG
APO-E
ApoE4
LDLCQ5
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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是乳糜微粒的主要载脂蛋白。它结合特定的肝脏和外周细胞受体,对富含甘油三酯的脂蛋白成分的正常分解代谢是必需的。这个基因在染色体19上与相关的载脂蛋白C1和C2基因聚类。这个基因的突变导致家族性低β脂蛋白血症,或称为III型高脂蛋白血症(HLP III),其中增加的血浆胆固醇和甘油三酯是由于乳糜微粒和VLDL残余物的清除受损所致。[由RefSeq,2016年6月提供]
Related ID:
NCBI:348
ENSEMBL:ENSG00000130203
HGNC:613
UNIPROT:P02649
OMIM:107741
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
348
5
4
3598 bp
36.15
147
7
42
90
APOE 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
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Cell-specific RNA expression
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Abundance
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Interactions
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Related Mouse Models
Type
Name
MGI
Strain of Origin
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Mutations
No data available
Related Drugs
Name
CAS Number
Status
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Link
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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