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中文人类
GJB3 - Gap Junction Protein Beta 3
Alias:
EKV
CX31
DFNA2
EKVP1
DFNA2B
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这个基因是连接蛋白基因家族的一员。编码的蛋白质是间隙连接的组成部分，间隙连接是由细胞间通道组成的阵列，为细胞间低分子量物质的扩散提供了一条途径。这个基因的突变可以导致非综合征性聋或可变性红斑角化病，这是一种皮肤疾病。选择性剪接导致了编码相同蛋白质的多种转录变体。[由RefSeq提供，2008年7月]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
GJB3 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
