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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
大鼠
Optn - optineurin
Alias:
Fip2
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
具有TFIIIA类转录因子结合活性;具有相同的蛋白质结合活性;具有泛素结合活性。参与几个过程,包括细胞对L-谷氨酸的反应;细胞对肿瘤坏死因子的反应;以及神经元凋亡过程的调节。位于几个细胞成分中,包括轴突;神经元细胞体;和细胞质核周区域。与高尔基体共定位。帕金森病的生物标志物;膀胱颈梗阻;蛋白尿;和短暂脑缺血。该基因的人类同源物涉及鲍顿病;肌萎缩侧索硬化症(多发性);和青光眼(多发性)。正交人类OPTN(视紫红质)。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:246294
ENSEMBL:ENSRNOG00000017941
UNIPROT:Q8R5M4
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
246294
13
14
50680 bp
67.01
15
2
Optn Genetics information (+)
mRatBN7.2
Sequence Homology
Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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Name
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IF
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