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The official name of this gene is “transmembrane protein 43.”
TMEM43 is the gene's official symbol. The TMEM43 gene is also known by other names, listed below.
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]
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.
Arrhythmogenic right ventricular dysplasia, familial, 5 (ARVD5): A congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias. The disease is caused by mutations affecting the gene represented in this entry.
|604400 (http://omim.org/entry/604400)||ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5|
|614302 (http://omim.org/entry/614302)||EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT|
|612048 (http://omim.org/entry/612048)||TRANSMEMBRANE PROTEIN 43|
Cytogenetic Location: 3p25.1
Molecular Location on chromosome 3: base pairs 14,124,939 to 14,143,679
The TMEM43 gene is located on the short (p) arm of chromosome 3 at position 25.1.
More precisely, the TMEM43 gene is located from base pair 14,124,939 to base pair 14,143,679 on chromosome 3.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about TMEM43 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
atrophy ; autosomal ; autosomal dominant ; cardiac ; cardiomyopathy ; congenital ; degenerative ; dysplasia ; familial ; gene ; heart failure ; inherited ; muscular dystrophy ; myocardial ; myocardium ; nervous system ; nuclear envelope ; nuclear membrane ; protein ; supraventricular ; tachycardia ; tissue ; transcription ; transcription factor ; ventricle
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (/glossary).
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.