MICU1

Mitochondrial calcium uptake protein 1 is a protein that in humans is encoded by the MICU1 gene (previously CBARA1). This protein functions as a calcium sensor that controls calcium uptake into the mitochondria by interaction with the mitochondrial calcium uniporter (MCU). In particular, it forms a disulfide bridge-bound heterodimer with MICU2 which, depending on the calcium concentration, either promotes or suppresses MCU activity.

Medical significance

Mutations in this gene have been associated with myopathy with extrapyramidal signs.Mojbafan M, Nojehdeh ST, Rahiminejad F, Nilipour Y, Tonekaboni SH, Zeinali S (2020) Reporting a rare form of myopathy, myopathy with extrapyramidal signs, in an Iranian family using next generation sequencing: a case report. BMC Med Genet 21(1):77

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