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FLASH GENE
Symbol MCU contributors: mct - updated : 26-05-2016
HGNC name mitochondrial calcium uniporter
HGNC id 23526
ASSOCIATED DISORDERS
corresponding disease(s)
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional       loss of function
known to mediate endoplasmic reticulum (ER) calcium release, as well as loss of ITPR2, necessary for mitochondrial calcium uptake, enable escape from oncogene-induced senescence (OIS)
constitutional   deletion    
vascular endothelial deletion of MCU and MCUR1 impaired mitochondrial bioenergetics, cell proliferation, and migration but elicited autophagy
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target
ANIMAL & CELL MODELS
  • Mcu(-/-) mice lack contractile responsiveness to acute beta-adrenergic receptor stimulation and in parallel are unable to activate mitochondrial dehydrogenases and display reduced bioenergetic reserve capacity
  • mitochondria from Mcu(-/-) mice lacked evidence for calcium-induced permeability transition pore (PTP) opening