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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
Gjb1 - gap junction protein, beta 1
Alias:
Cx32
Cxng
Cnx32
connexin-32
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
这个基因是间隙连接蛋白(连接蛋白)家族的成员。编码的蛋白质是间隙连接的组成部分,间隙连接由一组细胞间通道组成,这些通道为离子和小分子在细胞之间的扩散提供途径。类似的人类基因的突变导致X连锁的Charcot-Marie-Tooth病,这是一种遗传性周围神经病变。可变剪接产生多个转录子变异体,它们编码相同的蛋白质。[由RefSeq,2014年10月提供]
Related ID:
NCBI:14618
ENSEMBL:ENSMUSG00000047797
UNIPROT:P28230
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
14618
5
2
9254 bp
32.00
3
6
Gjb1 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
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Name
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