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中文人类
GJA1 - Gap Junction Protein Alpha 1
Alias:
HSS
CMDR
CX43
EKVP
GJAL
ODDD
AVSD3
EKVP3
HLHS1
PPKCA
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这个基因是连接蛋白基因家族的成员。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，为低分子量物质在细胞间扩散提供途径。编码的蛋白质是心脏中间隙连接的主要蛋白质，被认为在心脏的同步收缩和胚胎发育中具有重要作用。一个相关的无内含子的假基因已被定位到染色体5上。这个基因的突变与眼齿手指发育异常、常染色体隐性颅骨骨发育异常和心脏畸形有关。[由RefSeq提供，2014年5月]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
GJA1 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
