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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
Erlin2 - ER lipid raft associated 2
Alias:
Spfh2
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
具有预测的胆固醇结合活性以及泛素蛋白酶体结合活性。参与SREBP信号通路;脂质生物合成过程的负调控;以及泛素依赖的ERAD通路。在胆固醇代谢过程中处于上游或内部。位于几个细胞组件中,包括胞质;内质网;和膜筏。是蛋白质复合物的一部分。在内质网膜上活性。该基因的人类同源物与遗传性痉挛性截瘫18有关。与人类ERLIN2(内质网脂质筏关联2)同源。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:244373
ENSEMBL:ENSMUSG00000031483
UNIPROT:Q8BFZ9
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
244373
11
12
16067 bp
37.87
3
6
Erlin2 Genetics information (+)
GRCm39
Sequence Homology
Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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