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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
小鼠
Osbp2 - oxysterol binding protein 2
Alias:
Gm244
ORP-4
OSBPL1
1700095P05Rik
C630001G20Rik
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
这个基因编码的蛋白质属于胆固醇氧化结合蛋白相关家族,其特征是具有高度保守的EQVSHHPP基序的C端固醇结构域。胆固醇氧化衍生物参与包括凋亡、胆固醇稳态、脂质传播和细胞分化等多种机制。该蛋白质在大脑和睾丸中选择性高表达。在睾丸内,mRNA定位在减数分裂后的生殖细胞,包括精胞和精子,但在体细胞中无法检测。该基因的靶向缺失导致的小鼠突变纯合子表现不出明显的发育表型,但为雄性不育。雌性小鼠显示正常的生育能力。可变剪接导致多个转录变异体。[RefSeq,2014年10月提供]
Related ID:
NCBI:74309
ENSEMBL:ENSMUSG00000020435
UNIPROT:Q5QNQ6
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
74309
34
14
160270 bp
101.35
3
4
Osbp2 Genetics information (-)
GRCm39
Sequence Homology
Transcripts & Proteins
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Transcript
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* This data comes from NCBI.
Gene Expression
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