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Overview
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Background
This gene encodes an essential regulator of mitochondrial Ca2+ uptake under basal conditions. The encoded protein interacts with the mitochondrial calcium uniporter, a mitochondrial inner membrane Ca2+ channel, and is essential in preventing mitochondrial Ca2+ overload, which can cause excessive production of reactive oxygen species and cell stress. Alternatively spliced transcript variants encoding different isoforms have been described.
MICU1 (Mitochondrial Calcium Uptake 1) is a Protein Coding gene. Diseases associated with MICU1 include Myopathy With Extrapyramidal Signs and Fish Allergy. Among its related pathways are Ca, cAMP and Lipid Signaling. GO annotations related to this gene include calcium ion binding and protein heterodimerization activity. An important paralog of this gene is MICU3.
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