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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
NR1H3 - Nuclear Receptor Subfamily 1 Group H Member 3
Alias:
LXRA
LXR-a
RLD-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核受体超家族的NR1亚家族。NR1家族成员是巨噬细胞功能的关键调节者,控制与脂质稳态和炎症有关的转录程序。这个蛋白质在包括肝脏、肾脏和肠道在内的内脏器官中高度表达。它与类维生素A X受体(RXR)形成异源二聚体,并调节含有类维生素反应元素的目标基因的表达。缺乏这个基因的小鼠研究提示,它可能在胆固醇稳态调节中扮演重要角色。已经发现这个基因有不同的剪接转录变异体,编码不同的异构体。[RefSeq,2011年10月提供]
Related ID:
NCBI:10062
ENSEMBL:ENSG00000025434
HGNC:7966
UNIPROT:Q13133
OMIM:602423
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
10062
22
10
20734 bp
50.40
19
1
16
6
NR1H3 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
Organ
Abundance
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Interactions
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Regulation
Detail
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Residues
Reference
Score
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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
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Journal
Year
IF
No Data Found!
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