DISEASES

Disease-gene associations mined from literature

Literature associating MCU and vesicoureteral reflux

MCU [ENSP00000362144]

Coiled-coil domain-containing protein 109A; Mitochondrial inner membrane calcium uniporter that mediates calcium uptake into mitochondria. Constitutes the pore-forming and calcium-conducting subunit of the uniporter complex (uniplex). Activity is regulated by MICU1 and MICU2. At low Ca(2+) levels MCU activity is down- regulated by MICU1 and MICU2; at higher Ca(2+) levels MICU1 increases MCU activity. Mitochondrial calcium homeostasis plays key roles in cellular physiology and regulates cell bioenergetics, cytoplasmic calcium signals and activation of cell death pathways. Involved in buffering the amplitude of systolic calcium rises in cardiomyocytes. While dispensable for baseline homeostatic cardiac function, acts as a key regulator of short- term mitochondrial calcium loading underlying a 'fight-or-flight' response during acute stress: acts by mediating a rapid increase of mitochondrial calcium in pacemaker cells. participates in mitochondrial permeability transition during ischemia-reperfusion injury (By similarity). Regulates glucose- dependent insulin secretion in pancreatic beta-cells by regulating mitochondrial calcium uptake. Mitochondrial calcium uptake in skeletal muscle cells is involved in muscle size in adults (By similarity). Regulates synaptic vesicle endocytosis kinetics in central nerve terminal (By similarity). Involved in antigen processing and presentation (By similarity).

Synonyms:  MCU,  Q8NE86,  S4R319,  S4R332,  S4R3F5 ...

Linkouts:  STRING  Pharos  UniProt