Редактирование: TMEM43

Transmembrane protein 43 (Protein LUMA) [UNQ2564/PRO6244]

==Publications==

{{medline-entry
|title=Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the [[TMEM43]] gene.
|pubmed-url=https://pubmed.ncbi.nlm.nih.gov/18313022
|abstract=Autosomal-dominant arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) causes sudden cardiac death and is characterized by clinical and genetic heterogeneity. Fifteen unrelated ARVC families with a disease-associated haplotype on chromosome 3p (ARVD5) were ascertained from a genetically isolated population. Identification of key recombination events reduced the disease region to a 2.36 Mb interval containing 20 annotated genes. Bidirectional resequencing showed one rare variant in transmembrane protein 43 ([[TMEM43]] 1073C-->T, S358L), was carried on all recombinant ARVD5 ancestral haplotypes from affected subjects and not found in population controls. The mutation occurs in a highly conserved transmembrane domain of [[TMEM43]] and is predicted to be deleterious. Clinical outcomes in 257 affected and 151 unaffected subjects were compared, and penetrance was determined. We concluded that ARVC at locus ARVD5 is a lethal, fully penetrant, sex-influenced morbid disorder. Median life expectancy was 41 years in affected males compared to 71 years in affected females (relative risk 6.8, 95% CI 1.3-10.9). Heart failure was a late manifestation in survivors. Although little is known about the function of the [[TMEM43]] gene, it 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.
|mesh-terms=* Adolescent
* Adult
* Aged
* Aged, 80 and over
* Amino Acid Sequence
* Arrhythmogenic Right Ventricular Dysplasia
* Child
* Chromosomes, Human, Pair 3
* DNA Mutational Analysis
* Female
* Genetic Testing
* Heart Failure
* Humans
* Life Expectancy
* Male
* Membrane Proteins
* Middle Aged
* Molecular Sequence Data
* Mutation, Missense
* Myocardium
* Pedigree
* Penetrance
* Physical Chromosome Mapping
* Protein Conformation
* Sex Factors

|full-text-url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2427209
}}