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中文人类
TMEM43 - Transmembrane Protein 43
Alias:
LUMA
ARVC5
ARVD5
AUNA3
EDMD7
EDMD7
AUNA2
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这个基因属于TMEM43家族。这个基因的缺陷是导致家族性心律失常性右心室发育不良5型（ARVD5），也称为心律失常性右心室心肌病5型（ARVC5）的原因。心律失常性右心室发育不良是一种遗传性疾病，通常涉及左右心室，其特点是室性心动过速、心力衰竭、心源性猝死和心肌纤维脂肪替代。这个基因包含一个对PPAR gamma（一种脂肪生成转录因子）的应答元件，这可能解释了心肌的纤维脂肪替代，这是ARVC中的特征性病理发现。[由RefSeq，2008年10月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
TMEM43 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
