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Genetics Home Reference: your guide to understanding genetic conditions
http://ghr.nlm.nih.gov/     A service of the U.S. National Library of Medicine®

TMEM43

The information on this page was automatically extracted from online scientific databases.

What is the official name of the TMEM43 gene?

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.

What is the normal function of the TMEM43 gene?

From NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/79188):

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]

From UniProt (http://www.uniprot.org/uniprot/Q9BTV4):

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.

How are changes in the TMEM43 gene related to health conditions?

Genetics Home Reference provides information about arrhythmogenic right ventricular cardiomyopathy, which is associated with changes in the TMEM43 gene.
UniProt (http://www.uniprot.org/uniprot/Q9BTV4) provides the following information about the TMEM43 gene's known or predicted involvement in human disease.

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.

NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/79188) lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the TMEM43 gene.
  • Arrhythmogenic right ventricular cardiomyopathy, type 5
  • Emery-Dreifuss muscular dystrophy 7, autosomal dominant
OMIM.org (http://omim.org/), a catalog designed for genetics professionals and researchers, provides the following information about the TMEM43 gene and its association with health conditions.
OMIM
Number
Title

Where is the TMEM43 gene located?

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.

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.

Where can I find additional information about TMEM43?

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.

What other names do people use for the TMEM43 gene or gene products?

  • ARVC5
  • ARVD5
  • EDMD7
  • LUMA

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding TMEM43?

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.

 
Published: April 28, 2015