TMEM43

TMEM43
Identifiers
Aliases	TMEM43, ARVC5, ARVD5, EDMD7, LUMA, transmembrane protein 43, AUNA3, EDMD7; AUNA2
External IDs	OMIM: 612048; MGI: 1921372; HomoloGene: 11532; GeneCards: TMEM43; OMA:TMEM43 - orthologs
Gene location (Human)
Chr.	Chromosome 3 (human)
End	14,143,680 bp
Gene location (Mouse)
Chr.	Chromosome 6 (mouse)
End	91,465,445 bp
RNA expression pattern
	Top expressed in
	Descending thoracic aorta; ; ascending aorta; ; right coronary artery; ; tibial arteries; ; skin of abdomen; ; skin of hip; ; skin of leg; ; tendon of biceps brachii; ; left coronary artery; ; body of uterus;
	Top expressed in
	lactiferous gland; ; lip; ; granulocyte; ; esophagus; ; calvaria; ; ascending aorta; ; stroma of bone marrow; ; white adipose tissue; ; ankle; ; muscle of thigh;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	protein binding; protein self-association;
Cellular component	integral component of membrane; nuclear inner membrane; Golgi apparatus; endoplasmic reticulum; membrane; nucleus; integral component of nuclear inner membrane; endoplasmic reticulum lumen;
Biological process	nuclear membrane organization;
	Sources:Amigo / QuickGO
Orthologs
	79188
	74122
	ENSG00000170876
	ENSMUSG00000030095
	Q9BTV4
	Q9DBS1
	NM_024334
	NM_028766
	NP_077310
	NP_083042
	Wikidata
View/Edit Human	View/Edit Mouse

Transmembrane protein 43 (also called luma) is a protein that in humans is encoded by the TMEM43 gene. 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. However, the localization of TMEM43 in myocardial tissue is controversial discussed. Franke et al. demonstrated that TMEM43 is localized at the intercalated disc but not at the nuclear envelope. In contrast Christensen et al. have shown that TMEM43 is mainly localized at the sarcolemma. Mutations in TMEM43 are associated with ARVD and EDMD7.