Gene Symbol | MICU1 |
Entrez Gene ID | 10367 |
Full Name | mitochondrial calcium uptake 1 |
Synonyms | CALC,CBARA1,EFHA3,MPXPS |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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. [provided by RefSeq, Mar 2013]. |
Disorder MIM: | |
Disorder Html: | Myopathy with extrapyramidal signs, 615673 (3) |