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中文人类
GJB2 - Gap Junction Protein Beta 2
Alias:
HID
KID
PPK
BAPS
CX26
DFNA3
DFNB1
NSRD1
DFNA3A
DFNB1A
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这个基因编码一个间隙连接蛋白家族的成员。间隙连接最初通过电子显微镜在接触粘附细胞的质膜上区域化地特异地表征为结构。这些结构被证明由细胞间通道组成，这些通道促进离子和小分子在细胞之间的转移。间隙连接蛋白，也称为连接蛋白，从不同组织的富集间隙连接的级分中纯化，它们是不同的。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两个类别。这个基因的突变负责多达50%的语前、隐性耳聋。[RefSeq，2008年10月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
GJB2 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
