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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
Gja5 - gap junction protein, alpha 5
Alias:
Cx40
Cxni
Cnx40
Gja-5
5730555N10Rik
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
参与His束细胞-普肯耶心肌电耦合的间隙连接通道活动。涉及动脉形态发生;通过心脏传导中的电耦合参与细胞通信;以及调节心肌细胞动作电位。在几个过程的上游或内部发挥作用,包括心脏传导;循环系统发育;以及膜去极化的调节。位于间隙连接。在几个结构中表达,包括心血管系统;早期概念胚;肢芽基质;肌肉;和皮肤。用于研究法洛四联症。这个基因的人类同源物涉及房颤;心房停搏1;家族性房颤;和法洛四联症。与人类GJA5(间隙连接蛋白α5)正交。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:14613
ENSEMBL:ENSMUSG00000057123
UNIPROT:Q01231
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
14613
2
2
21233 bp
40.41
10
4
Gja5 Genetics information (+)
GRCm39
Sequence Homology
Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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