MPV17

MPV17
Identifiers
Aliases	MPV17, MTDPS6, SYM1, mitochondrial inner membrane protein, mitochondrial inner membrane protein CMT2EE
External IDs	OMIM: 137960; MGI: 97138; HomoloGene: 39746; GeneCards: MPV17; OMA:MPV17 - orthologs
Gene location (Human)
Chr.	Chromosome 2 (human)
End	27,325,680 bp
Gene location (Mouse)
Chr.	Chromosome 5 (mouse)
End	31,311,595 bp
RNA expression pattern
	Top expressed in
	right adrenal gland; ; right adrenal cortex; ; left adrenal gland; ; left adrenal cortex; ; right hemisphere of cerebellum; ; right lobe of thyroid gland; ; anterior pituitary; ; left lobe of thyroid gland; ; right frontal lobe; ; islet of Langerhans;
	Top expressed in
	right kidney; ; tail of embryo; ; yolk sac; ; genital tubercle; ; dentate gyrus of hippocampal formation granule cell; ; neural layer of retina; ; proximal tubule; ; epithelium of lens; ; muscle of thigh; ; right ventricle;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	molecular function;
Cellular component	integral component of membrane; mitochondrial inner membrane; peroxisome; membrane; mitochondrion; peroxisomal membrane; cytosol; cytoplasm;
Biological process	inner ear development; regulation of reactive oxygen species metabolic process; mitochondrial genome maintenance; glomerular basement membrane development; homeostatic process; cellular response to reactive oxygen species; protein targeting to peroxisome;
	Sources:Amigo / QuickGO
Orthologs
	4358
	17527
	ENSG00000115204
	ENSMUSG00000107283
	P39210
	P19258
	NM_002437
	NM_001294322; NM_001294324; NM_008622; NM_001310527; NM_001310528
	NP_002428
	NP_001281251; NP_001281253; NP_001297456; NP_001297457; NP_032648
	Wikidata
View/Edit Human	View/Edit Mouse

Protein MPV17 is a protein that in humans is encoded by the MPV17 gene. It is a mitochondrial inner membrane protein, which has a so far largely unknown role in mtDNA maintenance. Protein MPV17 is expressed in human pancreas, kidney, muscle, liver, lung, placenta, brain and heart. Human MPV17 is the orthologue of the mouse kidney disease gene, Mpv17. Loss of function has been shown to cause hepatocerebral mtDNA depletion syndromes (MDS) with oxidative phosphorylation failure and mtDNA depletion both in affected individuals and in Mpv17−/− mice.