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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
OPN1LW - Opsin 1, Long Wave Sensitive
Alias:
CBP
RCP
ROP
CBBM
COD5
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码视紫红质的光吸收视觉色素,属于视紫红质基因家族。编码的蛋白质被称为红锥光色素或长波敏感视紫红质。视紫红质是G蛋白偶联受体,具有7个跨膜结构域,一个N端细胞外结构域和一个C端胞质结构域。这个基因和中等波长视紫红质基因在X染色体上成对排列,这些序列之间可能频繁发生不平等重组和基因转换。X染色体可能含有中等波长和长波长视紫红质基因的融合,或者可能含有这些基因的多个拷贝。这个基因的缺陷是导致部分、偏色性色盲的原因。[由RefSeq,2008年7月提供]
Related ID:
NCBI:5956
ENSEMBL:ENSG00000102076
HGNC:9936
UNIPROT:P04000
OMIM:300822
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
5956
1
6
14790 bp
40.57
20
4
5
7
OPN1LW 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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