TMEM43 transmembrane protein 43

Gene ID: 79188, updated on 2-May-2024
Gene type: protein coding
Also known as: LUMA; ARVC5; ARVD5; AUNA3; EDMD7; EDMD7; AUNA2

Summary

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]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Arrhythmogenic right ventricular cardiomyopathy MedGen: C0349788GeneReviews: Arrhythmogenic Right Ventricular Cardiomyopathy Overview	See labs
Arrhythmogenic right ventricular dysplasia 5 MedGen: C1858379OMIM: 604400GeneReviews: Arrhythmogenic Right Ventricular Cardiomyopathy Overview	See labs
Auditory neuropathy, autosomal dominant 3 MedGen: C5676964OMIM: 619832GeneReviews: Not available	See labs
Emery-Dreifuss muscular dystrophy 7, autosomal dominant MedGen: C3553060OMIM: 614302GeneReviews: Not available	See labs

Copy number response

Description
Copy number response Haploinsufficency No evidence available (Last evaluated 2015-11-08) ClinGen Genome Curation Page Triplosensitivity No evidence available (Last evaluated 2015-11-08) ClinGen Genome Curation Page

Genomic context

Location:: 3p25.1

Sequence:: Chromosome: 3; NC_000003.12 (14125052..14143680)

Total number of exons:: 12

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for TMEM43 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ARVD/C Genetic Variants Database - TMEM43
ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
TMEM43 @ LOVD
Variation Viewer
Related Variants

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