Q9BTV4.1
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
44,876 Da
NCBI Official Full Name
Transmembrane protein 43
NCBI Official Synonym Full Names
transmembrane protein 43
NCBI Protein Information
transmembrane protein 43
UniProt Protein Name
Transmembrane protein 43
UniProt Synonym Protein Names
Protein LUMA
UniProt Entry Name
TMM43_HUMAN
NCBI Summary for TMEM43
This gene belongs to the TMEM43 family. Defects in this gene are the cause of familial arrhythmogenic right ventricular dysplasia type 5 (ARVD5), also known as arrhythmogenic right ventricular cardiomyopathy type 5 (ARVC5). Arrhythmogenic right ventricular dysplasia is an inherited disorder, often involving both ventricles, and is characterized by ventricular tachycardia, heart failure, sudden cardiac death, and fibrofatty replacement of cardiomyocytes. This gene contains a response element for PPAR gamma (an adipogenic transcription factor), which may explain the fibrofatty replacement of the myocardium, a characteristic pathological finding in ARVC. [provided by RefSeq, Oct 2008]
UniProt Comments for TMEM43
TMEM43: May have an important role in maintaining nuclear envelope structure by organizing protein complexes at the inner nuclear membrane. Required for retaining emerin at the inner nuclear membrane. Defects in TMEM43 are the cause of familial arrhythmogenic right ventricular dysplasia type 5 (ARVD5); also known as arrhythmogenic right ventricular cardiomyopathy (ARVC5). ARVD is an autosomal dominant disease characterized by partial degeneration of the myocardium of the right ventricle, electrical instability, and sudden death. It is clinically defined by electrocardiographic and angiographic criteria; pathologic findings, replacement of ventricular myocardium with fatty and fibrous elements, preferentially involve the right ventricular free wall. Belongs to the TMEM43 family.
Protein type: Membrane protein, multi-pass; Membrane protein, integral
Chromosomal Location of Human Ortholog: 3p25.1
Cellular Component: Golgi apparatus
Molecular Function: protein binding
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 5; Emery-dreifuss Muscular Dystrophy 7, Autosomal Dominant
Research Articles on TMEM43
Precautions
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Products associated with TMEM43 blocking peptide
Diseases associated with TMEM43 blocking peptide
Disease Name |
Pubmed Publications |
Cardiovascular Diseases Antibodies |
>24 publications with TMEM43 and Cardiovascular Diseases |
Heart Diseases Antibodies |
>24 publications with TMEM43 and Heart Diseases |
Death, Sudden, Cardiac Antibodies |
>16 publications with TMEM43 and Death, Sudden, Cardiac |
Nervous System Diseases Antibodies |
>2 publications with TMEM43 and Nervous System Diseases |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 Antibodies |
>2 publications with TMEM43 and Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
Disease Models, Animal Antibodies |
>1 publications with TMEM43 and Disease Models, Animal |
Organs/Tissues associated with TMEM43 blocking peptide
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