TMEM70

TMEM70
Identifiers
Aliases	TMEM70, MC5DN2, transmembrane protein 70
External IDs	OMIM: 612418; MGI: 1915068; HomoloGene: 9890; GeneCards: TMEM70; OMA:TMEM70 - orthologs
Gene location (Human)
Chr.	Chromosome 8 (human)
End	73,982,783 bp
Gene location (Mouse)
Chr.	Chromosome 1 (mouse)
End	16,748,499 bp
RNA expression pattern
	Top expressed in
	vastus lateralis muscle; ; glutes; ; deltoid muscle; ; biceps brachii; ; Skeletal muscle tissue of biceps brachii; ; thoracic diaphragm; ; right ventricle; ; Skeletal muscle tissue of rectus abdominis; ; triceps brachii muscle; ; body of tongue;
	Top expressed in
	intercostal muscle; ; sternocleidomastoid muscle; ; digastric muscle; ; temporal muscle; ; vastus lateralis muscle; ; triceps brachii muscle; ; myocardium of ventricle; ; brown adipose tissue; ; right ventricle; ; seminal vesicula;
	More reference expression data
	n/a
Gene ontology
Molecular function	molecular function;
Cellular component	integral component of membrane; mitochondrial inner membrane; integral component of mitochondrial membrane; membrane; mitochondrion; nucleoplasm;
Biological process	mitochondrial proton-transporting ATP synthase complex assembly;
	Sources:Amigo / QuickGO
Orthologs
	54968
	70397
	ENSG00000175606
	ENSMUSG00000025940
	Q9BUB7
	Q921N7
	NM_001040613; NM_017866
	NM_026392; NM_027415
	NP_001035703; NP_060336
	NP_080668; NP_081691
	Wikidata
View/Edit Human	View/Edit Mouse

Transmembrane protein 70 is a protein that in humans is encoded by the TMEM70 gene. It is a transmembrane protein located in the mitochondrial inner membrane involved in the assembly of the F1 and Fo structural subunits of ATP synthase. Mutations in this gene have been associated with neonatal mitochondrial encephalo-cardiomyopathy due to ATP synthase (Complex V) deficiency, causing a wide variety of symptoms including 3-methylglutaconic aciduria, lactic acidosis, mitochondrial myopathy, and cardiomyopathy.