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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
Gjb2 - gap junction protein, beta 2
Alias:
Cx26
Cxne
Cnx26
Gjb-2
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
促进间隙连接通道活性。参与细胞间信号传递和间隙连接介导的细胞间运输。在间隙连接组装的上游或内部发挥作用。位于间隙连接处。是质膜的完整成分。是连接蛋白复合物的组成部分。在包括消化系统、耳、生殖泌尿系统和皮肤在内的几个结构中表达。用于研究常染色体显性角膜炎-鱼鳞病-失聪综合征和常染色体隐性非综合征性失聪1A。该基因的人类同源物涉及巴特-庞普雷综合征、沃欣克尔综合征、常染色体显性角膜炎-鱼鳞病-失聪综合征、非综合征性失聪(多种)和掌跖角化病-失聪综合征。与人GJB2(间隙连接蛋白β2)正交。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:14619
ENSEMBL:ENSMUSG00000046352
UNIPROT:Q00977
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
14619
1
2
6101 bp
26.41
15
11
Gjb2 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
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Name
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