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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
Gjb6 - gap junction protein, beta 6
Alias:
Cx30
Cxnf
D14Bwg0506e
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
预测能够使细胞骨架蛋白结合活性和间隙连接通道活性参与细胞间通过电耦合的通信。在耳朵形态发生和声音感知中起上游或内部作用。位于间隙连接处。在膀胱、螺旋韧带、泌尿系统和膀胱的上皮中表达。用于研究Clouston综合征和常染色体隐性非综合征性耳聋1A。该基因的人类同源物涉及Clouston综合征、常染色体显性非综合征性耳聋3B、常染色体隐性非综合征性耳聋1A、常染色体隐性非综合征性耳聋1B和外胚层发育异常。与人类的GJB6(间隙连接蛋白β6)正交。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:14623
ENSEMBL:ENSMUSG00000040055
UNIPROT:P70689
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
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Reference
14623
5
3
10311 bp
30.37
7
9
Gjb6 Genetics information (-)
GRCm39
Sequence Homology
Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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