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中文人类
GJB1 - Gap Junction Protein Beta 1
Alias:
CMTX
CX32
CMTX1
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这个基因编码一个间隙连接蛋白家族的成员。间隙连接蛋白是跨膜蛋白，组装成间隙连接通道，促进离子和小分子在细胞之间的转移。根据核苷酸和氨基酸水平的序列相似性，间隙连接蛋白分为α和β两大类。这个基因的突变导致X连锁的Charcot-Marie-Tooth病，一种遗传性周围神经病变。已经发现这个基因的替代剪接转录变异体可以编码相同的蛋白质。[RefSeq，2008年10月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
GJB1 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
Table View
Tile View
#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
Alphabetical
Interactions
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Link
References Literature
Title
PMID
Journal
Year
IF
