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中文人类
APOB - Apolipoprotein B
Alias:
FLDB
FCHL2
LDLCQ4
apoB-48
apoB-100
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这个基因产物是乳糜微粒和低密度脂蛋白（LDL）的主要载脂蛋白，也是LDL受体的配体。它在血浆中以两种主要异构体存在，apoB-48和apoB-100：前者仅在肠道中合成，后者在肝脏中合成。apoB的肠道和肝脏形式由单个非常长的mRNA的一个基因编码，两种异构体共享一个共同的N端序列。较短的apoB-48蛋白是在apoB-100转录本的残基2180处（CAA->UAA）的RNA编辑后产生的，从而产生了终止密码子，并导致早期翻译终止。该基因或其调节区域的突变导致由于配体缺陷性apoB引起的低β-脂蛋血症、正常甘油三酯水平的低β-脂蛋血症和高胆固醇血症，这些疾病影响血浆胆固醇和apoB水平。[由RefSeq，2019年12月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
APOB Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
Table View
Tile View
#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
Alphabetical
Interactions
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Link
References Literature
Title
PMID
Journal
Year
IF
