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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
Best1 - bestrophin 1
Alias:
Bmd
Vmd2
mBest1
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
预测能激活氯通道活性并与相同蛋白质结合活性。在视觉感知和钙离子转运调控中,在光刺激检测的上游或内部发挥作用。预测位于基底侧膜上。预测是氯通道复合物的一部分。在脉络丛、新皮质和端脑脑膜中表达。用于研究bestrophinopathy和卵黄状黄斑变性。该基因的人类同源物与常染色体显性玻璃膜视网膜脉络膜病变、bestrophinopathy、黄斑变性、视网膜色素变性50和卵黄状黄斑变性有关。与人类BEST1(bestrophin 1)正交。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:24115
ENSEMBL:ENSMUSG00000037418
UNIPROT:O88870
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
24115
1
12
16462 bp
63.68
5
3
Best1 Genetics information (-)
GRCm39
Sequence Homology
Transcripts & Proteins
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#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
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* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
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Cell-specific RNA expression
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Interactions
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Acting
Regulation
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Type
Name
MGI
Strain of Origin
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References Literature
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IF
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