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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
NR1H2 - Nuclear Receptor Subfamily 1 Group H Member 2
Alias:
NER
UNR
LXRB
LXR-b
NER-I
RIP15
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
肝X受体LXRA(NR1H3;MIM 602423)和LXRB构成了核受体超家族的子家族,是巨噬细胞功能的关键调节者,控制与脂质稳态和炎症相关的转录程序。可诱导的LXRA在肝脏、肾上腺、肠道、脂肪组织、巨噬细胞、肺和肾脏中高度表达,而LXRB在全身各处广泛表达。配体激活的LXRs与类视黄醇X受体(RXRs;参见MIM 180245)形成必需异二聚体,并调节包含LXR响应元件的靶基因的表达(Korf等,2009年[PubMed 19436111]的概述)。[由OMIM于2010年1月提供]
Related ID:
NCBI:7376
ENSEMBL:ENSG00000131408
HGNC:7965
UNIPROT:P55055
OMIM:600380
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
7376
2
10
6932 bp
50.97
5
--
10
9
NR1H2 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Transcripts & Proteins
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Transcript
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CDS(bp)
Protein
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* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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