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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
OPN4 - Opsin 4
Alias:
MOP
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
视蛋白是鸟嘌呤核苷酸结合蛋白(G蛋白)耦合受体超家族的成员。这个基因编码一种在视网膜神经节细胞和胺酸色素细胞层中表达的光感受器视蛋白。在鼠中,表达这个基因的视网膜神经节细胞的轴突延伸到视交叉上核和其他参与昼夜光适应的脑核。在鼠中,这个蛋白通过G蛋白信号通路耦合到瞬时受体电位(TRP)离子通道,并通过膜去极化和细胞内钙增加产生生理光反应。这个蛋白作为感光色素起作用,可能还具有光异构酶活性。用敲除鼠进行的实验表明,这个基因减弱,但不是消除,光适应。可变剪接产生多种编码不同异型体的转录变异体。[RefSeq,2008年7月提供]
Related ID:
NCBI:94233
ENSEMBL:ENSG00000122375
HGNC:14449
UNIPROT:Q9UHM6
OMIM:606665
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
94233
4
10
11914 bp
52.63
33
--
16
3
OPN4 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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