Log In|Sign Up
中文人类
GJB6 - Gap Junction Protein Beta 6
Alias:
ED2
EDH
HED
CX30
HED2
DFNA3
ECTD2
DFNA3B
DFNB1B
Favorite
间隙连接允许离子和代谢物在相邻细胞的细胞质之间运输。它们由两个半通道组成，由六组连接蛋白组成。每个连接蛋白都有四个跨膜区段，两个细胞外环，两个内在跨膜区段之间的细胞环，以及位于细胞质的N-和C-末端。间隙连接的特异性取决于组成半通道的连接蛋白。过去，连接蛋白的名称基于它们的分子量，但现在使用基于哪种形式的间隙连接（α或β）存在的顺序编号。该基因编码一种连接蛋白。已发现该基因的突变导致某些形式的耳聋和某些家族性大疱性表皮发育不良。[RefSeq，2008年7月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
GJB6 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
